Canonical Allele Identifier: CA2620450848

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101768306-TTTAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768309_101768313del , CM000674.2:g.101768309_101768313del	GRCh38
NC_000012.11:g.102162087_102162091del , CM000674.1:g.102162087_102162091del	GRCh37
NC_000012.10:g.100686218_100686222del	NCBI36
NG_021243.1:g.67557_67561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-151_1285-147del MANE Select	ENSP00000299314.7:n.1285-151_1285-147del
ENST00000299314.11:c.1285-151_1285-147del	ENSP00000299314.7:n.1285-151_1285-147del
ENST00000549940.5:c.1285-151_1285-147del	ENSP00000449150.1:n.1285-151_1285-147del
NM_024312.4:c.1285-151_1285-147del	NP_077288.2:n.1285-151_1285-147del
XM_006719593.2:c.1285-151_1285-147del	XP_006719656.1:n.1285-151_1285-147del
XM_011538731.1:c.1204-151_1204-147del	XP_011537033.1:n.1204-151_1204-147del
XM_006719593.3:c.1285-151_1285-147del	XP_006719656.1:n.1285-151_1285-147del
XM_011538731.2:c.1204-151_1204-147del	XP_011537033.1:n.1204-151_1204-147del
XM_017019961.1:c.1069-151_1069-147del	XP_016875450.1:n.1069-151_1069-147del
XM_017019962.2:c.58-151_58-147del	XP_016875451.1:n.58-151_58-147del
NM_024312.5:c.1285-151_1285-147del MANE Select	NP_077288.2:n.1285-151_1285-147del