(used for variant description)
(last modified July 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_022081.5 in the HPS4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009763.2, covering HPS4 transcript NM_022081.5.
(upstream sequence)
g.5008
gcactcgg c.-661
. . . . . . g.5068
cacgtcatcgccgcgcgccggcttgccaggagctggagggggaggtaggcggggcggcgc c.-601
. . . . . . g.5128
gtgacctaaggcctctctgccgcgcgcgcaggtacggggcagaagtcgcaggtacccagc c.-541
. . . . . . g.5188
tgctgcccacatttctggtccagagtcccgaaccccgagcactgggatgcctggctactc c.-481
. | 02 . . . . . g.6681
cg | agccaaggcactgatgtttgaactggaaacttcaaaacgtttaataagagtcttcagg c.-421
. . . . . . g.6741
atgggtttgaactagacaagctagaaatttctttagaacaccagctctagcatgcatctc c.-361
. . . . . . g.6801
ccacttttggctttcctggagaggagcttgaagaggtggttctgcagacagccacagtga c.-301
. . . . . . g.6861
tacttaggaaaccagaggaatggatttgacttttctgctaggattctctgttatagtttc c.-241
. . . . . . g.6921
tccctgagttgtaagaggcatggaaatatacatgaaactgaagaacctgcaaggaaggga c.-181
. . . . . . g.6981
agtggaactttccatgctgagtgaaaactaaccaagtggcagttgtgactgaaaacactg c.-121
. . . . . . g.7041
aaacctaccacgtccagattcactggattgggggatagaggaacggtcacagctagggag c.-61
. . . . . . g.7101
aaagaagtgataccggaaaagaaaacctaaatgaagagaatgaggatgactgcacagtag c.-1
. . . . | 03 . . g.9527
ATGGCCACCTCTACCTCCACAGAGGCAAAGTCAGCCTCGTG | GTGGAATTATTTTTTTCTT c.60
M A T S T S T E A K S A S W | W N Y F F L p.20
. . . . . . g.9587
TATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTT c.120
Y D G S K V K E E G D P T R A G I C Y F p.40
. | 04 . . . . . g.11775
TATCCTTCCCAG | ACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTT c.180
Y P S Q | T L L D Q Q E L L C G Q I A G V p.60
. . . . . . g.11835
GTCCGCTGTGTTTCTGACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTG c.240
V R C V S D I S D S P P T L V R L R K L p.80
. . . | 05 . . . g.15948
AAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGG | GTGCTGGGCTGTGCTGTGGAGCTC c.300
K F A I K V D G D Y L W | V L G C A V E L p.100
. . . . . . g.16008
CCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAAT c.360
P D V S C K R F L D Q L V G F F N F Y N p.120
. . | 06 . . . . g.16481
GGACCTGTTTCCCTAGCTTATGAG | AACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGAC c.420
G P V S L A Y E | N C S Q E E L S T E W D p.140
. . . . . . g.16541
ACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTC c.480
T F I E Q I L K N T S D L H K I F N S L p.160
. . | 07 . . . . g.18089
TGGAACTTGGACCAAACTAAA | GTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTG c.540
W N L D Q T K | V E P L L L L K A A R I L p.180
. . . . . | 08 . g.20244
CAGACCTGCCAGCGCTCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACT | GATT c.600
Q T C Q R S P H I L A G C I L Y K G L | I p.200
. . . . . . g.20304
GTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCT c.660
V S T Q L P P S L T A K V L L H R T A P p.220
| 09 . . . | 10 . . g.23326
CAGGAGCAG | AGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATG | GAGCGGCATTGCCC c.720
Q E Q | R L P T G E D A P Q E H G | A A L P p.240
. . . . . . g.23386
CCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGTCTCCACGAG c.780
P N V Q I I P V F V T K E E A I S L H E p.260
. . | 11 . . . . g.24074
TTCCCGGTGGAACAGATGACAAG | GTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCA c.840
F P V E Q M T R | S L A S P A G L Q D G S p.280
. . . . . . g.24134
GCCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCAT c.900
A Q H H P K G G S T S A L K E N A T G H p.300
. . . . . . g.24194
GTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCTTGTCCAGAT c.960
V E S M A W T T P D P T S P D E A C P D p.320
. . . . . . g.24254
GGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGA c.1020
G R K E N G C L S G H D L E S I R P A G p.340
. . . . . . g.24314
CTGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTA c.1080
L H N S A R G E V L G L S S S L G K E L p.360
. . . . . . g.24374
GTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCTCAGGAAGTG c.1140
V F L Q E E L D L S E I H I P E A Q E V p.380
. . . . . . g.24434
GAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCT c.1200
E M A S G H F A F L H V P V P D G R A P p.400
. . . . . . g.24494
TACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACA c.1260
Y C K A S L S A S S S L E P T P P E D T p.420
. . . . . . g.24554
GCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCATGGAGCCCAA c.1320
A I S S L R P P S A P E M L T Q H G A Q p.440
. . . . . . g.24614
GAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCT c.1380
E Q L E D H P G H S S Q A P I P R A D P p.460
. . . . . . g.24674
CTCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGA c.1440
L P R R T R R P L L L P R L D P G Q R G p.480
. . . . . . g.24734
AACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTCTGTGAAAGC c.1500
N K L P T G E Q G L D E D V D G V C E S p.500
. . . . . . g.24794
CACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCC c.1560
H A A P G L E C S S G S A N C Q G A G P p.520
. . . . . . g.24854
TCTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGG c.1620
S A D G I S S R L T P A E S C M G L V R p.540
. . . . . . g.24914
ATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCTGAGGAGCCG c.1680
M N L Y T H C V K G L V L S L L A E E P p.560
. . . | 12 . . . g.30313
CTGCTGGGAGACAGCGCAGCCATAGAGGAAGTG | TACCACAGCAGCCTGGCTTCACTGAAT c.1740
L L G D S A A I E E V | Y H S S L A S L N p.580
. . . . . . g.30373
GGGCTGGAAGTCCACCTGAAAGAGACGCTGCCCAGGGATGAGGCAGCCTCCACGAGCAGC c.1800
G L E V H L K E T L P R D E A A S T S S p.600
. . . . | 13 . . g.30910
ACCTACAACTTCACACATTACGACCGCATTCAGAGCTTGCTGATGG | CAAACCTGCCGCAG c.1860
T Y N F T H Y D R I Q S L L M A | N L P Q p.620
. . . . . . g.30970
GTGGCCACCCCGCAGGATCGCCGCTTCCTCCAGGCCGTCAGCCTGATGCATAGCGAATTT c.1920
V A T P Q D R R F L Q A V S L M H S E F p.640
. . . | 14 . . . g.35484
GCCCAGCTGCCCGCGCTTTATGAAATGACTGTCAG | AAATGCCTCCACGGCTGTGTACGCC c.1980
A Q L P A L Y E M T V R | N A S T A V Y A p.660
. . . . . . g.35544
TGTTGCAACCCCATCCAGGAGACATATTTCCAGCAGCTGGCACCTGCAGCACGGAGCTCC c.2040
C C N P I Q E T Y F Q Q L A P A A R S S p.680
. . . . . . g.35604
GGCTTCCCAAACCCTCAGGATGGCGCCTTCAGCCTCTCCGGCAAAGCAAAGCAGAAGCTG c.2100
G F P N P Q D G A F S L S G K A K Q K L p.700
. . g.35631
CTGAAGCACGGGGTGAACTTGCTCTGA c.2127
L K H G V N L L X p.708
. . . . . . g.35691
actgcacccaggaggtgactgggaaggagaaaaccagcaaaggaagctctgccttttata c.*60
. . . . . . g.35751
attgaaaaggcccctctattttatttttcttgaaaacattcccttttttaggaaccaaat c.*120
. . . . . . g.35811
gatatttgagtttttgttattccttttgcagattgggatgtgttttgggggcaggggtta c.*180
. . . . . . g.35871
gttcttcaggtcggcagacccagagcacttgataaagaactgtatttaatcggtagtgtt c.*240
. . . . . . g.35931
ggggccgggacgggcttggctccctctctgccatactgagcctgaggtatttcatatctc c.*300
. . . . . . g.35991
ctgctgttccatcccagcttgaattggtgccacaagcttccaagttggcattttttctag c.*360
. . . . . . g.36051
aacctgatcgtccactagcccagagtgtgtgtgttcaacccccacaccaggtggtggtag c.*420
. . . . . . g.36111
gcggtgtgactgcacagcgaggtgccggatctgtgagcaggccgactccactcccacgcc c.*480
. . . . . . g.36171
gcaggtaggtttctccagtgcgctcttgctgggaggtccggatcgttcctgcagggaagc c.*540
. . . . . . g.36231
ggcagcacacggagaccacttggttgaattctgttggaactctactcaaatctaggggcg c.*600
. . . . . . g.36291
tcttctttggacccacaatgggggcaagccttaataatatggaagggagtttgggcttta c.*660
. . . . . . g.36351
gagatccctttataaaagctctgggggctgagccctgagaattcagtgacaacaggacca c.*720
. . . . . . g.36411
acctgcgctgcctttgactacaagtgggccgtgcagctggttcctctcgagcgagtgtcc c.*780
. . . . . . g.36471
ctaaataggagtttacaagatgtctgggggtaaaagcactgtgcttttcagtggtggctg c.*840
. . . . . . g.36531
cgtgaaagggagcgacactcagctgtgtgttcctgggcttgtgtggtacttagaacctca c.*900
. . . . . . g.36591
gttctattacgttatagtcagacatttttttgacagtatgagacagactgcaggatgaaa c.*960
. . . . . . g.36651
atatttgtcaaaatcttaactgaatgtttactggaagtacttgagattccatttgagagt c.*1020
. . . . . . g.36711
tgtattgttaataatttcatgtcagtgaactgatatctgatgtttatgatatggtgtctt c.*1080
. . . . . . g.36771
tttcttgaaacaagcttccaagggctagaaataaaatagccaaaaaatgctggagttctg c.*1140
. . . . . . g.36831
agtaattaaatggcagcatttttttgtgacaaaggtaagggttaagacagtgtgtgtgtg c.*1200
. . . . . . g.36891
tgtgtgtgtgtgtgtgtgtgtgtgtgtgcgcgcgcgcgcgcgcgcgtaacgtgggcgcat c.*1260
. . . . . . g.36951
ccctcttttccttccctgggttcagtgtggctgggtaaggaccgtctgtttgtagggctg c.*1320
. . . . . . g.37011
ccaggctgcagcctgctgctccagggagcaccagctgcagctgatccaatacaccaagcc c.*1380
. . . . . . g.37071
tgtgtctccctcttctatcacctctctccaggatctctgctgtctcttggatcccatctg c.*1440
. . . . . . g.37131
cctagatggaagaggatcctatccgaagctaggataaatgttgtcttactcctctgctat c.*1500
. . . . . . g.37191
gttctcccagaaaaaattgattacaagttctctgctgtggttgctgcagctccaggaagt c.*1560
. . . . . . g.37251
ccccgcaatgtctcacgttgtctttgaccagtggtccccagtaccaggccagcgaagaca c.*1620
. . . . . . g.37311
actttataatgtcatttgtgttgtgaaaattcttccactgacccaaaatggaaccgtaca c.*1680
. . . . . . g.37371
aagcctatccgtgtatatggaaaagtctcatgcacctggattaactcagaaaaagtaaag c.*1740
. . . . . . g.37431
tcctgaaacttcactttgcaggtgtgcccctttctttcctcctttgatcctgcttagttt c.*1800
. . . . . . g.37491
ctgcagtggaggttctgctcagagccccagggcactggcagctgcagccgtcatctctaa c.*1860
. . . . . . g.37551
agcttggtaactgtggcccagaggctgcagagaagaaacacttaacccgctgttttcccg c.*1920
. . . . . . g.37611
ttttttaatatttcagaggtttcagggggtcactcaggacacggttaatcccacagcccc c.*1980
. . . . . . g.37671
aggcccatcccctcaaaattagcgcccccagagtacgggccaagcgacggacagccaagc c.*2040
. . . . . . g.37731
agcatgttcttgctggaatgggcaccacaacctcttatggccatgtttcccaagggaagg c.*2100
. . . . . . g.37791
cagtgtgcaggacagcctgcccaccctggactcctagttgacaccgagtgccactgtcag c.*2160
. . . . . . g.37851
tgatccaggaccacagattctagtgactcttcagggcagaaaagcctctgttttggcttc c.*2220
. . . . . . g.37911
ctctgtgccagccatctgccacctgtgaactgtaaggataaaggtcgcatgagtgattaa c.*2280
. . . . . . g.37971
tagtggtgtgttagtccgttctcacggttctaataaagacatacccgagactgggtactt c.*2340
. g.37982
tataaaggaaa c.*2351
(downstream sequence)
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