(used for variant description)
(last modified February 28, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_015599.2 in the PGM3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering PGM3 transcript NM_015599.2.
(upstream sequence)
. . . . . g.5700
gagccggaagccacgcagggccacgtctgcggttctgaggactgggtttgggtgcag c.-61
. . . . . . | 02 g.7924
acgttgttgcttgggcgcttctccgctgcgtgtaggtgaagggggcttcctgaccgag | ac c.-1
. . . . . . g.7984
ATGGATTTAGGTGCTATTACAAAATACTCAGCATTACACGCCAAGCCCAATGGACTGATC c.60
M D L G A I T K Y S A L H A K P N G L I p.20
. . . . . . g.8044
CTTCAATACGGGACTGCTGGATTTCGAACGAAGGCAGAACATCTTGATCATGTCATGTTT c.120
L Q Y G T A G F R T K A E H L D H V M F p.40
. . . . . . g.8104
CGCATGGGATTATTAGCTGTCCTGAGGTCAAAACAGACAAAATCCACTATAGGAGTCATG c.180
R M G L L A V L R S K Q T K S T I G V M p.60
. . | 03 . . . . g.10174
GTAACAGCGTCCCACAATCCTGAG | GAAGACAATGGTGTAAAATTGGTTGATCCTTTGGGT c.240
V T A S H N P E | E D N G V K L V D P L G p.80
. . . . . . g.10234
GAAATGTTGGCACCATCCTGGGAGGAACATGCCACCTGTTTAGCAAATGCTGAGGAACAA c.300
E M L A P S W E E H A T C L A N A E E Q p.100
. . . . . . g.10294
GATATGCAGAGAGTGCTTATTGACATCAGCGAGAAAGAAGCTGTGAATCTGCAACAAGAT c.360
D M Q R V L I D I S E K E A V N L Q Q D p.120
. . | 04 . . . g.11892
GCCTTTGTAGTTATTGGTAGAGATACCAG | GCCCAGCAGTGAGAAACTTTCACAATCTGTA c.420
A F V V I G R D T R | P S S E K L S Q S V p.140
. . . | 05. . . g.15981
ATAGATGGTGTGACTGTTCTAGGAGGTCAATTCCATG | ATTATGGCTTGTTAACAACACCC c.480
I D G V T V L G G Q F H D | Y G L L T T P p.160
. . . . . . g.16041
CAGCTGCACTACATGGTGTATTGTCGAAACACGGGTGGCCGATATGGAAAGGCAACTATA c.540
Q L H Y M V Y C R N T G G R Y G K A T I p.180
. . . . . | 06 . g.17014
GAAGGTTACTACCAGAAACTCTCTAAGGCTTTTGTGGAACTCACCAAACAG | GCTTCTTGC c.600
E G Y Y Q K L S K A F V E L T K Q | A S C p.200
. . . . . . g.17074
AGTGGAGATGAATACAGATCACTTAAGGTTGACTGTGCAAATGGCATAGGGGCCCTGAAG c.660
S G D E Y R S L K V D C A N G I G A L K p.220
. . . . . . g.17134
CTAAGGGAAATGGAACACTACTTCTCACAGGGCCTGTCAGTTCAGCTGTTTAATGATGGG c.720
L R E M E H Y F S Q G L S V Q L F N D G p.240
. . . . . . g.17194
TCCAAGGGCAAACTCAATCATTTATGTGGAGCTGACTTTGTGAAAAGTCATCAGAAACCT c.780
S K G K L N H L C G A D F V K S H Q K P p.260
| 07. . . . . . g.19022
CCACAGG | GAATGGAAATTAAGTCCAATGAAAGATGCTGTTCTTTTGATGGAGATGCAGAC c.840
P Q G | M E I K S N E R C C S F D G D A D p.280
. . . . . . g.19082
AGAATTGTTTATTACTACCATGATGCAGATGGCCACTTTCATCTCATAGATGGAGACAAG c.900
R I V Y Y Y H D A D G H F H L I D G D K p.300
. . . . | 08 . . g.20195
ATAGCAACGTTAATTAGCAGTTTCCTTAAAGAGCTCCTGGTGGAG | ATTGGAGAAAGTTTG c.960
I A T L I S S F L K E L L V E | I G E S L p.320
. . . . . . g.20255
AATATTGGTGTTGTACAAACTGCATATGCAAATGGAAGTTCAACACGGTATCTTGAAGAA c.1020
N I G V V Q T A Y A N G S S T R Y L E E p.340
| 09 . . . . . g.22927
GTTATGAAG | GTACCTGTCTATTGCACTAAGACTGGTGTAAAACATTTGCACCACAAGGCT c.1080
V M K | V P V Y C T K T G V K H L H H K A p.360
. . . . | 10 . g.24461
CAAGAGTTTGACATTGGAGTTTATTTTGAAGCAAATGGGCATGGCACT | GCACTGTTTAGT c.1140
Q E F D I G V Y F E A N G H G T | A L F S p.380
. . . . . . g.24521
ACAGCTGTTGAAATGAAGATAAAACAATCAGCAGAACAACTGGAAGATAAGAAAAGAAAA c.1200
T A V E M K I K Q S A E Q L E D K K R K p.400
. . . . | 11 . . g.26895
GCTGCTAAGATGCTTGAAAACATTATTGACTTGTTTAACCAG | GCAGCTGGTGATGCTATT c.1260
A A K M L E N I I D L F N Q | A A G D A I p.420
. . . . . . g.26955
TCTGACATGCTGGTGATTGAAGCAATCTTGGCTCTGAAGGGCTTGACTGTACAACAGTGG c.1320
S D M L V I E A I L A L K G L T V Q Q W p.440
. . . . | 12 . . g.28473
GATGCTCTCTATACAGATCTTCCAAACAGACAACTTAAAGTTCAG | GTTGCAGACAGGAGA c.1380
D A L Y T D L P N R Q L K V Q | V A D R R p.460
. . . . . . g.28533
GTTATTAGCACTACCGATGCTGAAAGACAAGCAGTTACACCCCCAGGATTACAGGAGGCA c.1440
V I S T T D A E R Q A V T P P G L Q E A p.480
. . . . . . g.28593
ATCAATGACCTGGTGAAGAAGTACAAGCTTTCTCGAGCTTTTGTCCGGCCCTCTGGTACA c.1500
I N D L V K K Y K L S R A F V R P S G T p.500
. . . | 13 . . g.29634
GAAGATGTCGTCCGAGTATATGCAGAAGCAGACTCACAA | GAAAGTGCAGATCACCTTGCA c.1560
E D V V R V Y A E A D S Q | E S A D H L A p.520
. . . . . . g.29694
CATGAAGTGAGCTTGGCAGTATTTCAGCTGGCTGGAGGAATTGGAGAAAGGCCCCAACCA c.1620
H E V S L A V F Q L A G G I G E R P Q P p.540
g.29703
GGTTTCTGA c.1629
G F X p.542
. . . . . . g.29763
agataattttcatattcctgagaaactggactttttacaagtctttacaaaactgtcaat c.*60
. . . . . . g.29823
aataatggcagtactaagagatttataatcataatgtttacaatgcagcctactggattg c.*120
. . . . . . g.29883
tctctagatctgtttttcttaaacactaacagaataattctttataaataggtaagcctt c.*180
. . . . . . g.29943
acacttgttaaagaaatttacctctaatttcagtctcactaatgtaaaatactgggactt c.*240
. . . . . . g.30003
aagtatacaattcagtcactaactgtacagttttatgtggggaacaattcatgcaggcta c.*300
. . . . . . g.30063
ctggaaaattaaatcttattaccaactccttgtgatatctttgccatcaccatcacatga c.*360
. . . . . . g.30123
gcaagatgatgttttgcagcattccccattgctgatacaaatggagagggcagagaagac c.*420
. . . . . . g.30183
tttatacaaccagtttttccattgcagagtcttaagaaagattattagatgacttaccta c.*480
. . . . . . g.30243
tatgactaatgccatcaggaactcagaggtatgaatagggggttgtccatccctcttcca c.*540
. . . . . . g.30303
tactgaggtggagatgctcatgcaatacttttaaggatgcatggtccagccttcagttat c.*600
. . . . . . g.30363
tcttcactgctcttggtgaaggtatgtgggagaaaaactaattataatacgtttcccagc c.*660
. . . . . . g.30423
ctctgatggagaaggaacaccattctgataccagaacatggttaataaggaaaagagaaa c.*720
. . . . . . g.30483
aatccccaaccaatcttaattgaaccaagtctgaaaccaatggaaaaaaaaaatgggtag c.*780
. . . . . . g.30543
tgtatattttgcaggtttaagacaactcaggacaataaaaacaatggactttacatgtgt c.*840
. . . . . . g.30603
atatatatagctctcttaggcaccataatcagtatgagccaacaatatttaaacttgatt c.*900
. . . . . . g.30663
caggccacattcagacatttgctcttatatacaaatatttaaattaaatacaatctgaaa c.*960
. . . . . . g.30723
tgtgttctgttacatacaaaaaaggaaaaactatacaacgcagagcagtgtgtgtgtttt c.*1020
. . . . . . g.30783
aaataattacatttacatgtaagctaaatggaaccagcaatggtgctcaagtttttatca c.*1080
. . . . . . g.30843
tcccttccagaaaatctttttctaccatctcttctattttttgcctggctttgctggaac c.*1140
. . . . . . g.30903
atggtttgtggttctccagtttcatgtccttattagggaaggcatttgagtagaggatag c.*1200
. . . . . . g.30963
gactccctgagtgtcctccacatcggcttgtgactttgctgttgaagacttgactgagca c.*1260
. . . . . . g.31023
cattgaagaacggcaggagctgctccatactgcgcacggtgcagatggtgagcagcaagt c.*1320
. . . . . . g.31083
gccctggctcccaacccaatgttctccctgagttgtcttcctctggatttttctgcagaa c.*1380
. . . . . . g.31143
aacaaaaagtgaactggtattaatacaacagacaatgtggtatgttagaaaaattaaaaa c.*1440
. . . . . . g.31203
tatataaactttggcaattggtcaagaaatgaatacaaatgacattaagtttctaactcc c.*1500
. . . . . . g.31263
tgacctgatcaaaacccttggtgcttctgagaccttttactgccatttattagttttaca c.*1560
. . . . . . g.31323
tggagcagtctaacattgtagtaatagttcccaactagaatgcgcagataagcttagtta c.*1620
. . . . . . g.31383
acagaaatagctttgaacaggaatagagtcaaacataaaagttttatgttgtgctttgta c.*1680
. . . . . . g.31443
tttactcaaaaagctcccaggtttctgaaccctcactactgtaaccaaggactaggtcac c.*1740
. . . . . . g.31503
aaaattactacagaaaaaaggaacaaagtgctttatacatttcataatatatcccctttt c.*1800
. . . . . . g.31563
attataattagttaattcccttttatctaaatggcctaaatttgccatgatggtagcagt c.*1860
. . . . . . g.31623
gtccaaagtgaataattactgtcagtactgcatcacagagaaaggaagggatccctcagg c.*1920
. . . . . . g.31683
agacactgctgtctccttctgggttgtgctaaacaacatagggaggaaagctggacctgg c.*1980
. . . . . . g.31743
agtcaaaggaattgagttagtgtgctggctctgccatacttacggcacccttgggcagga c.*2040
. . . . . . g.31803
tatacaaaggttcctcacttataaaatgggacagtctaaaactaccttttagtagagaag c.*2100
. . . . . . g.31863
tcaaatgagaaggtatgtgaaaactctgtcaactaaatataaagactaataatttgggta c.*2160
. . . . . . g.31923
ttaagaggctagtttgagaagccacctgaattacacaaacacagctacagacatcattct c.*2220
. . . . . . g.31983
gtctagagaaagataagagagaacaggttggttgaacttgggcagaatcacagatacaat c.*2280
. . . . . . g.32043
tccacactaaagaatgaaaataagcaatgaactagacagaaggaagaaatcatgaagact c.*2340
. . . . . . g.32103
taggaagcagaattacaatctgtcatattaacaaatggagtttgccttctaagatcagat c.*2400
. . . . . . g.32163
gttgctcagaaactttcattgtttacctaataatttaatatcactagtttcctagtgggt c.*2460
. . . . . . g.32223
caagcagatgcaaaatccagcttattttcttctatgtgctctcaagcttattgcttattt c.*2520
. . . . . . g.32283
taaagtaaaatcctgaaaaaggaaaatattaggttggtgcaaacgtaattgcggtttttg c.*2580
. . . . . . g.32343
cattgttgaaatttgccgttttatattggagtacattcttaaataaatgtggttatgtta c.*2640
. . . . . . g.32403
tacatcattttaagcatatttctcactttttttttgctaatgacttattgctgtttatat c.*2700
. . . . . . g.32463
ttattttagactatggaaatgatgttagacaaaaatcaaatttagcgattttctgagttc c.*2760
. . . . . . g.32523
aaaataggttataaagcagcagagacaacacacaacatcaacaatgcatttggcccagga c.*2820
. . . . . . g.32583
actgctaatgaacatacagtgccgtgatggctcaagaagttttgcaaaggagactagagc c.*2880
. . . . . . g.32643
cttgaagatgaggagtgcagtggccagtcatcggaaattgataatgaccaattgagaaca c.*2940
. . . . . . g.32703
tcatcgaagctgatcctcttacaactataagagagctgcccaagaactcaatgttgacca c.*3000
. . . . . . g.32763
ttttatggtcgttcggcatttgaagcaaattgaaaaggtgaaaaagctcaataaatgggt c.*3060
. . . . . . g.32823
gcctcatgagctgagtgaaaaataaaaaaattcgttgttttgaagtgtcattttctctat c.*3120
. . . . . . g.32883
tctatgcaacaataatgaatcatttctctatcggattgtgatgtgtgccaaaaggtggat c.*3180
. . . . . . g.32943
tttatacgacaactggcgatgaccagctcagtggctggactgaaagaagctccaaagcac c.*3240
. . . . . . g.33003
ttcccaaagccaaacttgctccaaaaaatggtcatggtcattgtttggtggtttgctgcc c.*3300
. . . . . . g.33063
agtctgatccactacagctttctgaatccaggtgaaaccattacatctgataagtatgct c.*3360
. . . . . . g.33123
cagcaaatcaatgagatgcaccaaaaactgcaatgcctgcagccggcattggccaccaga c.*3420
. . . . . . g.33183
aagggcccaattcttttcacgacaacactgggccgcacgttgcacaaccaacgcttcgaa c.*3480
. . . . . . g.33243
aattgaactaattgggctatgaagttttgcctcatctgccatattcacctgacctcttgc c.*3540
. . . . . . g.33303
caacaaactaccacttctttaggcatctcagcaacgttttgcagggaaattgcttccaca c.*3600
. . . . . . g.33363
actagcaggacacagaaaatgctttccaagagttcgtcaaatttggaagcatggattttt c.*3660
. . . . . . g.33423
atgctacaggagtaaacaaacttatttctcattggcaaaaatgtgttgattgtaatggtt c.*3720
. . . . . . g.33483
cctattttaattaataaagatttgtgtgaacctagttataatgacttaaaattcatggtc c.*3780
. . . . . . g.33543
ccaaacagcaattacttttgcaccaaactaaaaatataagttaaaatggaagagtctagg c.*3840
. . . . . . g.33603
agcaaaccaagaaaagatcacctacttcatcatctctggtcaaaaacaaaccaaaaaact c.*3900
. . . . . . g.33663
taacagctatcacttaagtttgcttcctagcaattatttagcttccagtctagattacag c.*3960
. . . . . . g.33723
gatatataaaactttctttctttctttcttaactatgacactggcaccaatgagagtcct c.*4020
. . . . . . g.33783
gtgactgactttcacatttccaccattactcaattactggtaccataccacctctaatcc c.*4080
. . . . . . g.33843
cctaaatcaaactgcaattcaacaataaagggcgtacagagatgactttgtcctgaagga c.*4140
. . . . . . g.33903
aaatgaatatccttgtaccctctatatagctaacttccaaatgtaagagaactatggggt c.*4200
. . . . . . g.33963
aaccttttgtttctattcctatcaagatgagcctttaagagagggacttttattaagctc c.*4260
. . . . . . g.34023
ttgaccaagaagaatacacttgattcagagtttctgatgctcttaatcagaactatatgt c.*4320
. . . . g.34064
attgtctcaatattaaataaagtcaaatgtttccatacaaa c.*4361
(downstream sequence)
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