Canonical Allele Identifier: CA2620428767

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761773-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761775del , CM000674.2:g.101761775del	GRCh38
NC_000012.11:g.102155553del , CM000674.1:g.102155553del	GRCh37
NC_000012.10:g.100679684del	NCBI36
NG_021243.1:g.74094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-11del MANE Select	ENSP00000299314.7:n.2716-11del
ENST00000299314.11:c.2716-11del	ENSP00000299314.7:n.2716-11del
NM_024312.4:c.2716-11del	NP_077288.2:n.2716-11del
XM_006719593.2:c.2716-11del	XP_006719656.1:n.2716-11del
XM_011538731.1:c.2635-11del	XP_011537033.1:n.2635-11del
XM_006719593.3:c.2716-11del	XP_006719656.1:n.2716-11del
XM_011538731.2:c.2635-11del	XP_011537033.1:n.2635-11del
XM_017019961.1:c.2500-11del	XP_016875450.1:n.2500-11del
XM_017019962.2:c.1489-11del	XP_016875451.1:n.1489-11del
NM_024312.5:c.2716-11del MANE Select	NP_077288.2:n.2716-11del