Canonical Allele Identifier: CA2620445733

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101786074-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786075del , CM000674.2:g.101786075del	GRCh38
NC_000012.11:g.102179853del , CM000674.1:g.102179853del	GRCh37
NC_000012.10:g.100703984del	NCBI36
NG_021243.1:g.49793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.508del MANE Select	ENSP00000299314.7:p.Val170LeufsTer?
ENST00000299314.11:c.508del	ENSP00000299314.7:p.Val170LeufsTer?
ENST00000549940.5:c.508del	ENSP00000449150.1:p.Val170LeufsTer?
ENST00000550352.1:n.302del
ENST00000552681.1:c.142del	ENSP00000449217.1:p.Val48LeufsTer?
NM_024312.4:c.508del	NP_077288.2:p.Val170LeufsTer?
XM_006719593.2:c.508del	XP_006719656.1:p.Val170LeufsTer?
XM_011538731.1:c.427del	XP_011537033.1:p.Val143LeufsTer?
XM_006719593.3:c.508del	XP_006719656.1:p.Val170LeufsTer?
XM_011538731.2:c.427del	XP_011537033.1:p.Val143LeufsTer?
XM_017019961.1:c.292del	XP_016875450.1:p.Val98LeufsTer?
XM_017019962.2:c.-843del	XP_016875451.1:n.-843del
NM_024312.5:c.508del MANE Select	NP_077288.2:p.Val170LeufsTer?