Canonical Allele Identifier: CA2620450341

Gene: GNPTAB

Linked Data

• dbSNP Id: rs2137198064
• gnomAD v4: 12-101830714-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830715_101830716del , CM000674.2:g.101830715_101830716del	GRCh38
NC_000012.11:g.102224493_102224494del , CM000674.1:g.102224493_102224494del	GRCh37
NC_000012.10:g.100748624_100748625del	NCBI36
NG_021243.1:g.5152_5153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-41_-40del MANE Select	ENSP00000299314.7:n.-41_-40del
ENST00000299314.11:c.-41_-40del	ENSP00000299314.7:n.-41_-40del
ENST00000392919.4:c.-41_-40del	ENSP00000376651.4:n.-41_-40del
ENST00000549940.5:c.-41_-40del	ENSP00000449150.1:n.-41_-40del
NM_024312.4:c.-41_-40del	NP_077288.2:n.-41_-40del
XM_006719593.2:c.-41_-40del	XP_006719656.1:n.-41_-40del
XM_006719593.3:c.-41_-40del	XP_006719656.1:n.-41_-40del
XM_017019961.1:c.-190_-189del	XP_016875450.1:n.-190_-189del
XM_017019962.2:c.-1391_-1390del	XP_016875451.1:n.-1391_-1390del
NM_024312.5:c.-41_-40del MANE Select	NP_077288.2:n.-41_-40del