Canonical Allele Identifier: CA2620450466

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101768129-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768132_101768133del , CM000674.2:g.101768132_101768133del	GRCh38
NC_000012.11:g.102161910_102161911del , CM000674.1:g.102161910_102161911del	GRCh37
NC_000012.10:g.100686041_100686042del	NCBI36
NG_021243.1:g.67737_67738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1314_1315del MANE Select	ENSP00000299314.7:p.Ala439ArgfsTer9
ENST00000299314.11:c.1314_1315del	ENSP00000299314.7:p.Ala439ArgfsTer9
ENST00000549940.5:c.1314_1315del	ENSP00000449150.1:p.Ala439ArgfsTer9
NM_024312.4:c.1314_1315del	NP_077288.2:p.Ala439ArgfsTer9
XM_006719593.2:c.1314_1315del	XP_006719656.1:p.Ala439ArgfsTer9
XM_011538731.1:c.1233_1234del	XP_011537033.1:p.Ala412ArgfsTer9
XM_006719593.3:c.1314_1315del	XP_006719656.1:p.Ala439ArgfsTer9
XM_011538731.2:c.1233_1234del	XP_011537033.1:p.Ala412ArgfsTer9
XM_017019961.1:c.1098_1099del	XP_016875450.1:p.Ala367ArgfsTer9
XM_017019962.2:c.87_88del	XP_016875451.1:p.Ala30ArgfsTer9
NM_024312.5:c.1314_1315del MANE Select	NP_077288.2:p.Ala439ArgfsTer9