Canonical Allele Identifier: CA6747049
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs76300806
ExAC: 12:102224491 A / AGCC
gnomAD v2: 12-102224491-A-AGCC
gnomAD v3: 12-101830713-A-AGCC
gnomAD v4: 12-101830713-A-AGCC
MyVariant Identifiers: chr12:g.102224503_102224504insGCC (hg19) chr12:g.102224500_102224501insGCC (hg19) chr12:g.102224491_102224492insGCC (hg19) chr12:g.101830722_101830723insGCC (hg38) chr12:g.101830713_101830714insGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830735_101830737dup , CM000674.2:g.101830735_101830737dup GRCh38
NC_000012.11:g.102224513_102224515dup , CM000674.1:g.102224513_102224515dup GRCh37
NC_000012.10:g.100748644_100748646dup NCBI36
NG_021243.1:g.5152_5154dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-41_-39dup MANE Select ENSP00000299314.7:n.-41_-39dup
ENST00000299314.11:c.-41_-39dup ENSP00000299314.7:n.-41_-39dup
ENST00000392919.4:c.-41_-39dup ENSP00000376651.4:n.-41_-39dup
ENST00000549940.5:c.-41_-39dup ENSP00000449150.1:n.-41_-39dup
NM_024312.4:c.-41_-39dup NP_077288.2:n.-41_-39dup
XM_006719593.2:c.-41_-39dup XP_006719656.1:n.-41_-39dup
XM_006719593.3:c.-41_-39dup XP_006719656.1:n.-41_-39dup
XM_017019961.1:c.-190_-188dup XP_016875450.1:n.-190_-188dup
XM_017019962.2:c.-1391_-1389dup XP_016875451.1:n.-1391_-1389dup
NM_024312.5:c.-41_-39dup MANE Select NP_077288.2:n.-41_-39dup
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