(used for variant description)
(last modified July 12, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001134225.1 in the INPP4A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering INPP4A transcript NM_001134225.1.
(upstream sequence)
. . . g.5033
gtctagagcggcggcggctggctagggctgcgg c.-361
. . . . . . g.5093
cgcgcgtggagggttcgctgctggtttgccgccgggtcgggctccgtgggccggggcagg c.-301
. . . . . . g.5153
aggaccagcacctgaggccgggcccgcagcccgcgacttcacagccaggcggcggcgctg c.-241
. . . . . . g.5213
ctgctgctgcggggctctggcgcgcagcccggcgggacagcggggcggctggcgccgggg c.-181
. . | 02 . . . . g.79151
gccggggagcgccag | atgatggatttggacatgcttctatgaagaaatgccacatggtcc c.-121
. . | 03 . . . . g.80131
gagagcaaacatgtcca | ggctactgccactttagtggactagggctcggtgccagcactt c.-61
. . . . . . g.80191
cccgggtaatcaggcgtggtctgaccgaggatcaagaagcacatcatcaccaatgacatc c.-1
. . . . . . g.80251
ATGACAGCAAGAGAGCACAGCCCTCGCCATGGTGCCAGGGCCCGTGCAATGCAGCGGGCT c.60
M T A R E H S P R H G A R A R A M Q R A p.20
. . . . | 04 . . g.80843
TCCACCATCGACGTGGCGGCCGACATGCTGGGCCTCTCTCTGGCAG | GAAATATACAAGAC c.120
S T I D V A A D M L G L S L A G | N I Q D p.40
. . . | 05 . . . g.93548
CCAGATGAGCCCATTTTAGAATTTAGCTTAG | CTTGCAGTGAGCTGCATACTCCATCGCTA c.180
P D E P I L E F S L A | C S E L H T P S L p.60
. . . . . . g.93608
GATCGAAAGCCAAATAGTTTTGTTGCGGTGAGTGTCACCACCCCTCCTCAGGCATTCTGG c.240
D R K P N S F V A V S V T T P P Q A F W p.80
. . . | 06 . . . g.95901
ACGAAGCATGCACAGACGGAGATCATTGAG | GGAACCAACAATCCTATATTTCTAAGCAGT c.300
T K H A Q T E I I E | G T N N P I F L S S p.100
. . . . . . g.95961
ATTGCCTTCTTTCAAGACTCTCTTATCAATCAGATGACACAAGTCAAACTCTCCGTGTAT c.360
I A F F Q D S L I N Q M T Q V K L S V Y p.120
. . | 07. . . . g.96304
GATGTCAAAGATAGATCTCAGGGAACA | ATGTATTTACTGGGCTCTGGAACGTTCATTGTC c.420
D V K D R S Q G T | M Y L L G S G T F I V p.140
. . . . | 08. . g.98018
AAAGATCTGCTCCAGGACAGGCATCATAGGTTGCATTTAACACTAAG | GTCTGCAGAGAGT c.480
K D L L Q D R H H R L H L T L R | S A E S p.160
. . . . . . g.98078
GACCGTGTAGGTAACATCACCGTGATTGGCTGGCAGATGGAGGAGAAGTCAGACCAACGG c.540
D R V G N I T V I G W Q M E E K S D Q R p.180
. . . | 09 . . g.99054
CCCCCTGTGACCCGGTCTGTGGACACTGTCAATGGGAGG | ATGGTTCTTCCTGTCGATGAG c.600
P P V T R S V D T V N G R | M V L P V D E p.200
. . . . . . g.99114
AGCTTGACGGAGGCGTTAGGAATCCGATCCAAATACGCTTCATTGCGAAAGGACACTTTG c.660
S L T E A L G I R S K Y A S L R K D T L p.220
. | 10 . . . . . g.99720
CTGAAATCGG | TGTTCGGTGGTGCCATCTGCCGCATGTACCGGTTTCCAACCACTGATGGT c.720
L K S V | F G G A I C R M Y R F P T T D G p.240
. . . . . . g.99780
AACCATTTGCGGATCCTGGAGCAGATGGCAGAGAGCGTGCTCTCCCTGCACGTGCCCCGG c.780
N H L R I L E Q M A E S V L S L H V P R p.260
. . . | 11 . . g.104041
CAGTTCGTGAAGCTCCTACTAGAGGAAGATGCAGCCAG | AGTGTGTGAGCTGGAGGAGCTG c.840
Q F V K L L L E E D A A R | V C E L E E L p.280
. . . . . . g.104101
GGAGAGCTGTCCCCTTGCTGGGAGAGCCTCCGGCGCCAAATTGTCACCCAGTACCAGACC c.900
G E L S P C W E S L R R Q I V T Q Y Q T p.300
. . . . | 12 . g.106122
ATCATCCTCACATACCAGGAGAACCTGACCGACCTCCATCAGTACAGAG | GGCCCTCGTTT c.960
I I L T Y Q E N L T D L H Q Y R G | P S F p.320
. . . . . . g.106182
AAAGCAAGCAGTTTGAAAGCAGATAAAAAGTTAGAATTTGTTCCCACAAACTTGCACATA c.1020
K A S S L K A D K K L E F V P T N L H I p.340
. . . | 13 . . . g.106754
CAAAGGATGAGAGTTCAAGACGATGGAGGATCAG | ATCAGAACTACGACATCGTCACCATT c.1080
Q R M R V Q D D G G S D | Q N Y D I V T I p.360
. . . . . . g.106814
GGGGCGCCAGCAGCACACTGCCAAGGTTTTAAGTCAGGAGGTCTCCGCAAAAAGCTGCAC c.1140
G A P A A H C Q G F K S G G L R K K L H p.380
. . | 14 . . . . g.112965
AAATTTGAAGAGACCAAGAAACA | TACATCATCTGGCTGCCAGTCCATAATCTACATACCC c.1200
K F E E T K K H | T S S G C Q S I I Y I P p.400
. . . . . . g.113025
CAGGATGTTGTCAGAGCCAAGGAGATCATCGCCCAGATCAACACCCTGAAAACCCAAGTG c.1260
Q D V V R A K E I I A Q I N T L K T Q V p.420
. . . . . . g.113085
AGTTACTACGCAGAGCGGCTGTCAAGGGCAGCCAAGGACAGGTCTGCCACTGGCCTTGAG c.1320
S Y Y A E R L S R A A K D R S A T G L E p.440
. . | 15. . . . g.114446
AGGACACTCGCCATCTTGGCAGACAAG | ACACGGCAGCTGGTCACGGTCTGCGACTGCAAG c.1380
R T L A I L A D K | T R Q L V T V C D C K p.460
. . . . . . g.114506
CTCCTGGCCAACTCCATCCATGGGCTGAACGCTGCACGGCCTGACTACATTGCCTCCAAG c.1440
L L A N S I H G L N A A R P D Y I A S K p.480
. . . . . . g.114566
GCCTCTCCCACTTCGACTGAGGAGGAGCAGGTGATGCTTAGAAATGACCAGGACACCCTC c.1500
A S P T S T E E E Q V M L R N D Q D T L p.500
. . . . . . g.114626
ATGGCCCGGTGGACAGGGAGAAACAGCCGATCTTCCCTGCAGGTGGACTGGCACGAGGAG c.1560
M A R W T G R N S R S S L Q V D W H E E p.520
| 16 . . . . . . g.115749
GAGTGG | GAGAAAGTGTGGCTGAACGTGGACAAGAGCCTAGAGTGCATCATTCAGCGTGTG c.1620
E W | E K V W L N V D K S L E C I I Q R V p.540
. . . . . . g.115809
GACAAGCTGCTGCAGAAGGAGCGGCTGCATGGCGAGGGCTGTGAGGATGTCTTCCCCTGT c.1680
D K L L Q K E R L H G E G C E D V F P C p.560
. . . . . . g.115869
GCAGGCAGCTGCACCAGCAAGAAAGGTAACCCGGACAGCCACGCCTACTGGATCAGACCA c.1740
A G S C T S K K G N P D S H A Y W I R P p.580
. . . . . . g.115929
GAAGACCCCTTCTGTGATGTCCCCTCCTCACCATGCCCCTCCACCATGCCCTCCACTGCA c.1800
E D P F C D V P S S P C P S T M P S T A p.600
. . | 17 . . . | 18 . g.123612
TGCCATCCTCATCTGACCACAC | ATTGCAGTCCCCCTCCTGAAGAGTCCAGCCCAG | GTGAA c.1860
C H P H L T T H | C S P P P E E S S P G | E p.620
. . . . . . g.123672
TGGAGTGAGGCCCTTTACCCGCTGCTGACCACTCTCACCGACTGCGTGGCCATGATGAGT c.1920
W S E A L Y P L L T T L T D C V A M M S p.640
. . . . . . g.123732
GACAAGGCCAAGAAGGCCATGGTATTCCTGCTCATGCAGGACAGCGCGCCCACCATAGCC c.1980
D K A K K A M V F L L M Q D S A P T I A p.660
. . . . | 19 . g.124794
ACCTACCTGAGCCTGCAGTACCGCCGTGACGTGGTCTTCTGCCAGACG | CTGACCGCCCTC c.2040
T Y L S L Q Y R R D V V F C Q T | L T A L p.680
. . . . . . g.124854
ATCTGCGGCTTCATCATTAAGCTGAGGAACTGCCTGCATGACGACGGCTTCCTGCGCCAG c.2100
I C G F I I K L R N C L H D D G F L R Q p.700
. . . . . | 20 . g.125790
CTCTACACCATCGGGCTGCTGGCCCAGTTCGAGAGCCTGCTGAGCACCTACG | GGGAGGAG c.2160
L Y T I G L L A Q F E S L L S T Y G | E E p.720
. . . . . . g.125850
CTGGCAATGCTGGAGGACATGAGCCTTGGGATCATGGACTTGAGGAACGTGACCTTCAAA c.2220
L A M L E D M S L G I M D L R N V T F K p.740
. . . . . | 21 g.126172
GTCACTCAGGCCACTTCCAGCGCCTCCGCAGACATGCTGCCCGTCATCACAGGAAATCG | C c.2280
V T Q A T S S A S A D M L P V I T G N R | p.760
. . . . . . g.126232
GACGGGTTTAACGTGCGGGTCCCTCTGCCGGGCCCGCTGTTTGACGCCTTGCCCCGGGAG c.2340
D G F N V R V P L P G P L F D A L P R E p.780
. . . . . . g.126292
ATCCAGAGTGGCATGCTGCTGCGAGTGCAGCCCGTCCTCTTCAACGTGGGCATCAATGAG c.2400
I Q S G M L L R V Q P V L F N V G I N E p.800
. . | 22 . . . . g.128753
CAGCAGACACTGGCCGAGAG | GTTTGGCGATACGTCTTTACAAGAAGTCATCAACGTGGAG c.2460
Q Q T L A E R | F G D T S L Q E V I N V E p.820
. . . . . | 23 g.132959
AGTTTGGTGCGGTTAAATTCCTACTTTGAGCAGTTTAAGGAAGTTTTGCCTGAGGATT | GC c.2520
S L V R L N S Y F E Q F K E V L P E D C | p.840
. . . . . . g.133019
CTGCCTCGGTCTCGCAGTCAGACGTGCCTGCCAGAGCTGCTGCGGTTTCTGGGTCAGAAC c.2580
L P R S R S Q T C L P E L L R F L G Q N p.860
. . . . . | 24 . g.137140
GTGCATGCCCGGAAGAATAAGAACGTCGACATTCTCTGGCAAGCTGCTGAG | ATCTGCCGC c.2640
V H A R K N K N V D I L W Q A A E | I C R p.880
. . . . . . g.137200
CGCCTTAATGGGGTCCGGTTCACCAGCTGCAAGAGCGCTAAGGACCGTACAGCCATGTCG c.2700
R L N G V R F T S C K S A K D R T A M S p.900
. . . . . . g.137260
GTGACACTGGAGCAGTGCCTGATCCTGCAACACGAGCATGGCATGGCCCCGCAGGTCTTC c.2760
V T L E Q C L I L Q H E H G M A P Q V F p.920
. . | 25 . . . . g.147652
ACCCAGGCCCTGGAGTGCATGCGCAG | TGAGGGTTGTCGAAGAGAAAATACAATGAAGAAT c.2820
T Q A L E C M R S | E G C R R E N T M K N p.940
. . . . . . g.147712
GTTGGAAGTCGCAAATATGCATTTAATTCCCTGCAGCTGAAGGCTTTCCCCAAGCATTAC c.2880
V G S R K Y A F N S L Q L K A F P K H Y p.960
. . . g.147751
AGGCCTCCCGAAGGGACTTACGGAAAAGTTGAAACGTGA c.2919
R P P E G T Y G K V E T X p.972
. . . . . . g.147811
acacacggtttcctctaattagctgttacataataaatgtgggtaccctctagtgtcata c.*60
. . . . . . g.147871
tatgaattcttcaagaagacctgaaggattggtttttattttttgtggtttttttaaaaa c.*120
. . . . . . g.147931
aaacatttcactaaagagtctctggagcatgttttttgttttttgggtttttttccccat c.*180
. . . . . . g.147991
tggaatcaataggaggtaatgtttggctcaatagtgtggatagtaacaactgcctattta c.*240
. . . . . . g.148051
aattaaatagcctttggctgtaactacacagatctcatcaatagttacctacatgaatca c.*300
. . . . . . g.148111
agctaggtttgtctgaaatgctagaagactttttcaaatgcctgcttgctcacttacttt c.*360
. . . . . . g.148171
tctacagagtaactcaaaagtaaccattgaattacaatccactttgtaaaaatctgaatg c.*420
. . . . . . g.148231
taaaacagtaaataataaattaaataattggatcctaggcataccaataaatgttatttg c.*480
. . . . . . g.148291
gggaaagaagctagcactatctcatgcagtgagaataacgggttctagtgaattatccta c.*540
. . . . . . g.148351
tctacactaccacctgaagaagttgaaagaaagattgataaatcaacgggagataagact c.*600
. . . . . . g.148411
ttattagaaggtaacacctgcaaggtaccccacatagttggggccactcttttttctgtc c.*660
. . . . . . g.148471
ccttatgagttacagaacagggagtctgctggagacacaaagccagcagtaaggtccctt c.*720
. . . . . . g.148531
tagcctgtctcctgttctctgaagctccctgccgaggctccctcacgcccagaggacaca c.*780
. . . . . . g.148591
tctccccttcttctctagatgttaatgtagggcctcagatgtggcatgtcaacactccca c.*840
. . . . . . g.148651
tggggaatttatgaccatagagatagtagaaacctaaatattttcagaaaaaaaattttt c.*900
. . . . . . g.148711
tttgcaggatttccaatttatctttgaaaagacagtacaatcatgtttgaatgtctgatg c.*960
. . . . . . g.148771
aaagtgtcttatttttaggtttgcaataattgttactttcttattctcattcttatgtaa c.*1020
. . . . . . g.148831
gatgactattgagaaacagttgaaatttattctcctcaaatgagattttgaaagggattt c.*1080
. . . . . . g.148891
atgggccataaaacttaggaatttcatagaaaattttgtctggtcatcttttataagatg c.*1140
. . . . . . g.148951
atgatgagtcttatctgcacatagcagagtttgtttcttaggagtttatatgttttattg c.*1200
. . . . . . g.149011
attctgtttacgatgtttacatgttcttgaaaaggttgtaaaagaaatacatatggcaca c.*1260
. . . . . . g.149071
tattaatgatgctgatcctaatgatttgtgaacctcttagaaattcttttgtctaaaagc c.*1320
. . . . . . g.149131
ctagagattcttctggttcctttagaaacatgtaacaaacttgggccaggggtgctgagg c.*1380
. . . . . . g.149191
catggggaggactgcttattggcaggaacacagagggggtgggcatcaggtagggtggaa c.*1440
. . . . . . g.149251
ctggatgaccttccagaccccctcctactcagaagtcagcatgcaagcagcgcctgctgt c.*1500
. . . . . . g.149311
ctcccgatgcctgcagggaggaaaatgtctgtgaaggacactttaatgaaggacgaagct c.*1560
. . . . . . g.149371
ctctgctgctccctcaaagctgagttcactgtggcaggcaggaagcagagaagctcctgc c.*1620
. . . . . . g.149431
ccgccaaacccactgcacaggtggctgctgctggtatcagattctcctttttaagtgtca c.*1680
. . . . . . g.149491
atttctgttcacagacagtttgttttcaatatggctgatttaccctttcacctctccacc c.*1740
. . . . . . g.149551
atctcatttaatttgtaaatttttagttctgtcttttctcattttaacttttaaaaaatc c.*1800
. . . . . . g.149611
tccttgctttttaaaaataaatattacccacatagttttcagatcttttttgtctggaga c.*1860
. . . . . . g.149671
gcattaaatatctgcactcatcaaagggaatatagcaaatgttgatcatctgtcagcagt c.*1920
. . . . . . g.149731
tttgcatgtgacacctttatatgaattattttcccaatttttgctctatgtaatgggtca c.*1980
. . . . . . g.149791
ccataaaactgtaagacttggcaaatgctatagaaaaggttcaggtttcagtattctctc c.*2040
. . . . . . g.149851
tgaaggcatcattcctgggcttccggcagcatcacacgcttccagtgcctgcagggtgag c.*2100
. . . . . . g.149911
ggtgtgtggcacagaggcaagcagctcctctcttctgtaggagctttgggttttcagagg c.*2160
. . . . . . g.149971
tgcagggaaggcagttttacaggttaccgtaaaacagaggttccgtccagtgttccttat c.*2220
. . . . . . g.150031
gatgcctccccatttaaaaagaaaagagatctatggaaaactgggaatgtaatgtggatt c.*2280
. . . . . . g.150091
ctgtcagagctcctacagagcacagttgcctttagtttcctttaaagatgtaaaaatatt c.*2340
. . . . . . g.150151
gtataatacagttttgtccctacacaattgtatttgccaagcttagtgcattatgatacc c.*2400
. . . . . . g.150211
tttatttatttgttttgggcagtattactatatatatataaacatacagttactgtttta c.*2460
. . . . . . g.150271
tatattcttaggtcattcaaagccatgtatgctgtaaatgtgctagtctttagaatgaca c.*2520
. . . . . . g.150331
cataataaataactgacaagatattaaatgtggtcttgcctgattcatcctattaggagg c.*2580
. . . . . . g.150391
actagttctatgtgaccagcctgtgactggaccattgttcttgggcattgcattgagtgc c.*2640
. . . . . . g.150451
tcgggtgctgaatacatgtttgtaaacatgggaccatgggagacttccattttataagct c.*2700
. . . . . . g.150511
tgtttctgcctaatttgaagcagaggggcaacagcgttgaggttaagagcacggactttg c.*2760
. . . . . . g.150571
ggagcacacagaccaggtcccaatcctggttctgcccctgactggctggtgactctgagc c.*2820
. . . . . . g.150631
aagttgcttgacctctccaagcctccgtttcctcatgtgcaaagtgtggacaacaacagt c.*2880
. . . . . . g.150691
accttcctcataaggaacgtgcgacgcgcctcagaagtacgtgttcataaatggtagcca c.*2940
. . . . . . g.150751
ttgttgttaccttcccgtctgtgaacatggatcacatcatctctgtgggtaacccagtcc c.*3000
. . . . . . g.150811
tcgttgtatgacttgtcaaaatgcagttccacttgtattaatattgaccctgttcatcgt c.*3060
. . . . . . g.150871
caccaggactgcatcttgcaccactgtgccgtcttctaggcacacacgacccgttatctc c.*3120
. . . . . . g.150931
ccttggaaaaattcctctcactggaaatgtacaattaaaggatgattgaaatgtttaact c.*3180
. . . . . . g.150991
cttggagtttttagtattaccaaactcctagaaatttaagctaccaccaaaaataacatg c.*3240
. . . . . . g.151051
tgccttttccctttattctcattgatggtagcagtgcacctcgtttcagtgtcctgattc c.*3300
. . . . . . g.151111
cttgattactgtgaacactgaacatcttttatacctttatgatatttctatgtttgtgac c.*3360
. . . . . . g.151171
ttcattggaatgttgatctatttcatatagattgtttttaatatacaatgtattagcccc c.*3420
g.151176
tgtca c.*3425
(downstream sequence)
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