Canonical Allele Identifier: CA2620444420

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770590-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770595del , CM000674.2:g.101770595del	GRCh38
NC_000012.11:g.102164373del , CM000674.1:g.102164373del	GRCh37
NC_000012.10:g.100688504del	NCBI36
NG_021243.1:g.65277del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.934-6del MANE Select	ENSP00000299314.7:n.934-6del
ENST00000299314.11:c.934-6del	ENSP00000299314.7:n.934-6del
ENST00000549940.5:c.934-6del	ENSP00000449150.1:n.934-6del
NM_024312.4:c.934-6del	NP_077288.2:n.934-6del
XM_006719593.2:c.934-6del	XP_006719656.1:n.934-6del
XM_011538731.1:c.853-6del	XP_011537033.1:n.853-6del
XM_006719593.3:c.934-6del	XP_006719656.1:n.934-6del
XM_011538731.2:c.853-6del	XP_011537033.1:n.853-6del
XM_017019961.1:c.718-6del	XP_016875450.1:n.718-6del
XM_017019962.2:c.-300del	XP_016875451.1:n.-300del
NM_024312.5:c.934-6del MANE Select	NP_077288.2:n.934-6del