Canonical Allele Identifier: CA2620450773

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101768290-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768294_101768295del , CM000674.2:g.101768294_101768295del	GRCh38
NC_000012.11:g.102162072_102162073del , CM000674.1:g.102162072_102162073del	GRCh37
NC_000012.10:g.100686203_100686204del	NCBI36
NG_021243.1:g.67576_67577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-132_1285-131del MANE Select	ENSP00000299314.7:n.1285-132_1285-131del
ENST00000299314.11:c.1285-132_1285-131del	ENSP00000299314.7:n.1285-132_1285-131del
ENST00000549940.5:c.1285-132_1285-131del	ENSP00000449150.1:n.1285-132_1285-131del
NM_024312.4:c.1285-132_1285-131del	NP_077288.2:n.1285-132_1285-131del
XM_006719593.2:c.1285-132_1285-131del	XP_006719656.1:n.1285-132_1285-131del
XM_011538731.1:c.1204-132_1204-131del	XP_011537033.1:n.1204-132_1204-131del
XM_006719593.3:c.1285-132_1285-131del	XP_006719656.1:n.1285-132_1285-131del
XM_011538731.2:c.1204-132_1204-131del	XP_011537033.1:n.1204-132_1204-131del
XM_017019961.1:c.1069-132_1069-131del	XP_016875450.1:n.1069-132_1069-131del
XM_017019962.2:c.58-132_58-131del	XP_016875451.1:n.58-132_58-131del
NM_024312.5:c.1285-132_1285-131del MANE Select	NP_077288.2:n.1285-132_1285-131del