Canonical Allele Identifier: CA2620444660

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770723-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770724del , CM000674.2:g.101770724del	GRCh38
NC_000012.11:g.102164502del , CM000674.1:g.102164502del	GRCh37
NC_000012.10:g.100688633del	NCBI36
NG_021243.1:g.65144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.934-139del MANE Select	ENSP00000299314.7:n.934-139del
ENST00000299314.11:c.934-139del	ENSP00000299314.7:n.934-139del
ENST00000549940.5:c.934-139del	ENSP00000449150.1:n.934-139del
NM_024312.4:c.934-139del	NP_077288.2:n.934-139del
XM_006719593.2:c.934-139del	XP_006719656.1:n.934-139del
XM_011538731.1:c.853-139del	XP_011537033.1:n.853-139del
XM_006719593.3:c.934-139del	XP_006719656.1:n.934-139del
XM_011538731.2:c.853-139del	XP_011537033.1:n.853-139del
XM_017019961.1:c.718-139del	XP_016875450.1:n.718-139del
XM_017019962.2:c.-417-16del	XP_016875451.1:n.-417-16del
NM_024312.5:c.934-139del MANE Select	NP_077288.2:n.934-139del