(used for variant description)
(last modified September 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001448.2 in the GPC4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012498.1, covering GPC4 transcript NM_001448.2.
(upstream sequence)
. . . g.5032
gcctggcaccggggaccgttgcctgacgcgag c.-181
. . . . . . g.5092
gcccagctctacttttcgccccgcgtctcctccgcctgctcgcctcttccaccaactcca c.-121
. . . . . . g.5152
actccttctccctccagctccactcgctagtccccgactccgccagccctcggcccgctg c.-61
. . . . . . g.5212
ccgtagcgccgcttcccgtccggtcccaaaggtgggaacgcgtccgccccggcccgcacc c.-1
. . . . . . g.5272
ATGGCACGGTTCGGCTTGCCCGCGCTTCTCTGCACCCTGGCAGTGCTCAGCGCCGCGCTG c.60
M A R F G L P A L L C T L A V L S A A L p.20
. . . . . . g.5332
CTGGCTGCCGAGCTCAAGTCGAAAAGTTGCTCGGAAGTGCGACGTCTTTACGTGTCCAAA c.120
L A A E L K S K S C S E V R R L Y V S K p.40
. . . . | 02 . . g.80856
GGCTTCAACAAGAACGATGCCCCCCTCCACGAGATCAACG | GTGATCATTTGAAGATCTGT c.180
G F N K N D A P L H E I N G | D H L K I C p.60
. . . . . . g.80916
CCCCAGGGTTCTACCTGCTGCTCTCAAGAGATGGAGGAGAAGTACAGCCTGCAAAGTAAA c.240
P Q G S T C C S Q E M E E K Y S L Q S K p.80
. . . . . . g.80976
GATGATTTCAAAAGTGTGGTCAGCGAACAGTGCAATCATTTGCAAGCTGTCTTTGCTTCA c.300
D D F K S V V S E Q C N H L Q A V F A S p.100
. | 03 . . . . g.95682
CGTTACAAGAAGTTTGATG | AATTCTTCAAAGAACTACTTGAAAATGCAGAGAAATCCCTG c.360
R Y K K F D E | F F K E L L E N A E K S L p.120
. . . . . . g.95742
AATGATATGTTTGTGAAGACATATGGCCATTTATACATGCAAAATTCTGAGCTATTTAAA c.420
N D M F V K T Y G H L Y M Q N S E L F K p.140
. . . . . . g.95802
GATCTCTTCGTAGAGTTGAAACGTTACTACGTGGTGGGAAATGTGAACCTGGAAGAAATG c.480
D L F V E L K R Y Y V V G N V N L E E M p.160
. . . . . . g.95862
CTAAATGACTTCTGGGCTCGCCTCCTGGAGCGGATGTTCCGCCTGGTGAACTCCCAGTAC c.540
L N D F W A R L L E R M F R L V N S Q Y p.180
. . . . . . g.95922
CACTTTACAGATGAGTATCTGGAATGTGTGAGCAAGTATACGGAGCAGCTGAAGCCCTTC c.600
H F T D E Y L E C V S K Y T E Q L K P F p.200
. . . . . . g.95982
GGAGATGTCCCTCGCAAATTGAAGCTCCAGGTTACTCGTGCTTTTGTAGCAGCCCGTACT c.660
G D V P R K L K L Q V T R A F V A A R T p.220
. . . . . | 04 . g.108763
TTCGCTCAAGGCTTAGCGGTTGCGGGAGATGTCGTGAGCAAGGTCTCCGTG | GTAAACCCC c.720
F A Q G L A V A G D V V S K V S V | V N P p.240
. . . . . . g.108823
ACAGCCCAGTGTACCCATGCCCTGTTGAAGATGATCTACTGCTCCCACTGCCGGGGTCTC c.780
T A Q C T H A L L K M I Y C S H C R G L p.260
. . . . . . g.108883
GTGACTGTGAAGCCATGTTACAACTACTGCTCAAACATCATGAGAGGCTGTTTGGCCAAC c.840
V T V K P C Y N Y C S N I M R G C L A N p.280
. . . | 05. . . g.114046
CAAGGGGATCTCGATTTTGAATGGAACAATTTCATAG | ATGCTATGCTGATGGTGGCAGAG c.900
Q G D L D F E W N N F I D | A M L M V A E p.300
. . . . . . g.114106
AGGCTAGAGGGTCCTTTCAACATTGAATCGGTCATGGATCCCATCGATGTGAAGATTTCT c.960
R L E G P F N I E S V M D P I D V K I S p.320
. . . . | 06 . g.114271
GATGCTATTATGAACATGCAGGATAATAGTGTTCAAGTGTCTCAGAAG | GTTTTCCAGGGA c.1020
D A I M N M Q D N S V Q V S Q K | V F Q G p.340
. . . . . . g.114331
TGTGGACCCCCCAAGCCCCTCCCAGCTGGACGAATTTCTCGTTCCATCTCTGAAAGTGCC c.1080
C G P P K P L P A G R I S R S I S E S A p.360
. . . . . . g.114391
TTCAGTGCTCGCTTCAGACCACATCACCCCGAGGAACGCCCAACCACAGCAGCTGGCACT c.1140
F S A R F R P H H P E E R P T T A A G T p.380
. | 07 . . . . . g.115361
AGTTTGGACCGACTG | GTTACTGATGTCAAGGAGAAACTGAAACAGGCCAAGAAATTCTGG c.1200
S L D R L | V T D V K E K L K Q A K K F W p.400
. . . . . . g.115421
TCCTCCCTTCCGAGCAACGTTTGCAACGATGAGAGGATGGCTGCAGGAAACGGCAATGAG c.1260
S S L P S N V C N D E R M A A G N G N E p.420
. . . | 08 . . . g.116864
GATGACTGTTGGAATGGGAAAGGCAAAAGCAG | GTACCTGTTTGCAGTGACAGGAAATGGA c.1320
D D C W N G K G K S R | Y L F A V T G N G p.440
. . . . . . g.116924
TTAGCCAACCAGGGCAACAACCCAGAGGTCCAGGTTGACACCAGCAAACCAGACATACTG c.1380
L A N Q G N N P E V Q V D T S K P D I L p.460
. . . . . . g.116984
ATCCTTCGTCAAATCATGGCTCTTCGAGTGATGACCAGCAAGATGAAGAATGCATACAAT c.1440
I L R Q I M A L R V M T S K M K N A Y N p.480
. . | 09 . . . g.117140
GGGAACGACGTGGACTTCTTTGATATCA | GTGATGAAAGTAGTGGAGAAGGAAGTGGAAGT c.1500
G N D V D F F D I S | D E S S G E G S G S p.500
. . . . . . g.117200
GGCTGTGAGTATCAGCAGTGCCCTTCAGAGTTTGACTACAATGCCACTGACCATGCTGGG c.1560
G C E Y Q Q C P S E F D Y N A T D H A G p.520
. . . . . . g.117260
AAGAGTGCCAATGAGAAAGCCGACAGTGCTGGTGTCCGTCCTGGGGCACAGGCCTACCTC c.1620
K S A N E K A D S A G V R P G A Q A Y L p.540
. . . . . g.117311
CTCACTGTCTTCTGCATCTTGTTCCTGGTTATGCAGAGAGAGTGGAGATAA c.1671
L T V F C I L F L V M Q R E W R X p.556
. . . . . . g.117371
ttctcaaactctgagaaaaagtgttcatcaaaaagttaaaaggcaccagttatcactttt c.*60
. . . . . . g.117431
ctaccatcctagtgactttgctttttaaatgaatggacaacaatgtacagtttttactat c.*120
. . . . . . g.117491
gtggccactggtttaagaagtgctgactttgttttctcattcagttttgggaggaaaagg c.*180
. . . . . . g.117551
gactgtgcattgagttggttcctgctcccccaaaccatgttaaacgtggctaacagtgta c.*240
. . . . . . g.117611
ggtacagaactatagttagttgtgcatttgtgattttatcactctattatttgtttgtat c.*300
. . . . . . g.117671
gtttttttctcatttcgtttgtgggtttttttttccaactgtgatctcgccttgtttctt c.*360
. . . . . . g.117731
acaagcaaaccagggtcccttcttggcacgtaacatgtacgtatttctgaaatattaaat c.*420
. . . . . . g.117791
agctgtacagaagcaggttttatttatcatgttatcttattaaaagaaaaagcccaaaaa c.*480
. . . . . . g.117851
gcagtaaaatttccatttctccctgttattttagttgccttatctggagagacgtggagg c.*540
. . . . . . g.117911
tgattttcttttttttaaattattattaagacagaatgtgagggcacaagcaggcttctg c.*600
. . . . . . g.117971
agccacttgtcagattgtattcaaagcatcaatccaagaaggaggttatgtgtacttcat c.*660
. . . . . . g.118031
ttattggtgatagttggaagagactgcagactactgctttgaatgagttgaattacataa c.*720
. . . . . . g.118091
gctaagatcactataggtccatttcttgaacccacttatacataaaatgtaacccattta c.*780
. . . . . . g.118151
gaaaaagattctggatatcatcccccttgaaagatagaaagcattcaggatgtcccagtt c.*840
. . . . . . g.118211
atcacatgttcacacttgggtttaggggtgtttttttttaaaaccaggcaggttagctag c.*900
. . . . . . g.118271
cccaccctgtgctagttttcatgttcacactgaccctatttgaattaatatcctttgtta c.*960
. . . . . . g.118331
gagtggtcgagatttcaaacccaattatgtacagggagctgtctgagagctagccagaac c.*1020
. . . . . . g.118391
tggggtacagcctgggctcagggaatagctgtcaacactcgggcaaagtttttgtctgtg c.*1080
. . . . . . g.118451
catgtgtatctccatttgttttgggatcccagtttttgttttaagagagtataaggtgtc c.*1140
. . . . . . g.118511
tcatttgagtctttttcttacctagccccctcttatcagtaaaacaaaggacttgccatg c.*1200
. . . . . . g.118571
gttcacagcaatgtgctacgatccaagatatcagccaaggagcccacttaggggagaact c.*1260
. . . . . . g.118631
aggtgtccagatttttgtatgtgttgtttttcttgggggatggggtggggtgggagtagg c.*1320
. . . . . . g.118691
tagagctgagaatactacatcttagtggtgacctttagccacgtgggtgaagtggcaaag c.*1380
. . . . . . g.118751
gccatggccatatctgttgtcccaggccaaagactaacaactgccttgggaatcccttcc c.*1440
. . . . . . g.118811
ttgtgtccttaccaaatgatagctcataaaactctgataatgtaacaaatcactttcaaa c.*1500
. . . . . . g.118871
ggagttcccagaagtcttcagaaagactaaaattctgtctcttcctgctttagacagcca c.*1560
. . . . . . g.118931
ttaagatcccaactaattttaccgaacctaaaacccacaaagaggttgtttgtgttattg c.*1620
. . . . . . g.118991
ttcaatcttcagttgtaagagtaattctctatttttatattgaaacataattacttgata c.*1680
. . . . . . g.119051
gctcagggtctacatttcattcaactttttacaccaaattctgcagagtggtcaaaatgg c.*1740
. . . . . . g.119111
aatattgggggctgttgtaaacagaggcttaattttattagaagtagccagttatttatt c.*1800
. . . g.119142
aaagcatgatgttaataaaataggcatattc c.*1831
(downstream sequence)
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