Canonical Allele Identifier: CA2580085646

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2031775
• ClinVar RCV Id: RCV002867468

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786099del , CM000674.2:g.101786099del	GRCh38
NC_000012.11:g.102179877del , CM000674.1:g.102179877del	GRCh37
NC_000012.10:g.100704008del	NCBI36
NG_021243.1:g.49769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.484del MANE Select	ENSP00000299314.7:p.His162IlefsTer?
ENST00000299314.11:c.484del	ENSP00000299314.7:p.His162IlefsTer?
ENST00000549940.5:c.484del	ENSP00000449150.1:p.His162IlefsTer?
ENST00000550352.1:n.278del
ENST00000552681.1:c.118del	ENSP00000449217.1:p.His40IlefsTer?
NM_024312.4:c.484del	NP_077288.2:p.His162IlefsTer?
XM_006719593.2:c.484del	XP_006719656.1:p.His162IlefsTer?
XM_011538731.1:c.403del	XP_011537033.1:p.His135IlefsTer?
XM_006719593.3:c.484del	XP_006719656.1:p.His162IlefsTer?
XM_011538731.2:c.403del	XP_011537033.1:p.His135IlefsTer?
XM_017019961.1:c.268del	XP_016875450.1:p.His90IlefsTer?
XM_017019962.2:c.-867del	XP_016875451.1:n.-867del
NM_024312.5:c.484del MANE Select	NP_077288.2:p.His162IlefsTer?