Canonical Allele Identifier: CA951152237

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1953120145
• gnomAD v3: 12-101768022-T-TTAACACATCCTTACCAGAGCAATCCCCACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATC
• gnomAD v4: 12-101768022-T-TTAACACATCCTTACCAGAGCAATCCCCACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768023_101768107dup , CM000674.2:g.101768023_101768107dup	GRCh38
NC_000012.11:g.102161801_102161885dup , CM000674.1:g.102161801_102161885dup	GRCh37
NC_000012.10:g.100685932_100686016dup	NCBI36
NG_021243.1:g.67761_67845dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1338_1408+14dup
ENST00000299314.11:c.1338_1408+14dup
ENST00000549940.5:c.1338_1422dup	ENSP00000449150.1:p.Asn475AspfsTer2
NM_024312.4:c.1338_1408+14dup
XM_006719593.2:c.1338_1408+14dup
XM_011538731.1:c.1257_1327+14dup
XM_006719593.3:c.1338_1408+14dup
XM_011538731.2:c.1257_1327+14dup
XM_017019961.1:c.1122_1192+14dup
XM_017019962.2:c.111_181+14dup
NM_024312.5:c.1338_1408+14dup