Canonical Allele Identifier: CA2573332474

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786103del , CM000674.2:g.101786103del	GRCh38
NC_000012.11:g.102179881del , CM000674.1:g.102179881del	GRCh37
NC_000012.10:g.100704012del	NCBI36
NG_021243.1:g.49768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.483del MANE Select	ENSP00000299314.7:p.His162IlefsTer?
ENST00000299314.11:c.483del	ENSP00000299314.7:p.His162IlefsTer?
ENST00000549940.5:c.483del	ENSP00000449150.1:p.His162IlefsTer?
ENST00000550352.1:n.277del
ENST00000552681.1:c.117del	ENSP00000449217.1:p.His40IlefsTer?
NM_024312.4:c.483del	NP_077288.2:p.His162IlefsTer?
XM_006719593.2:c.483del	XP_006719656.1:p.His162IlefsTer?
XM_011538731.1:c.402del	XP_011537033.1:p.His135IlefsTer?
XM_006719593.3:c.483del	XP_006719656.1:p.His162IlefsTer?
XM_011538731.2:c.402del	XP_011537033.1:p.His135IlefsTer?
XM_017019961.1:c.267del	XP_016875450.1:p.His90IlefsTer?
XM_017019962.2:c.-868del	XP_016875451.1:n.-868del
NM_024312.5:c.483del MANE Select	NP_077288.2:p.His162IlefsTer?