Canonical Allele Identifier: CA2797215491

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796717_101796733del , CM000674.2:g.101796717_101796733del	GRCh38
NC_000012.11:g.102190495_102190511del , CM000674.1:g.102190495_102190511del	GRCh37
NC_000012.10:g.100714626_100714642del	NCBI36
NG_021243.1:g.39137_39153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.149_165del MANE Select	ENSP00000299314.7:p.His50LeufsTer2
ENST00000647144.1:n.269_285del
ENST00000299314.11:c.149_165del	ENSP00000299314.7:p.His50LeufsTer2
ENST00000392919.4:c.149_165del	ENSP00000376651.4:p.His50LeufsTer2
ENST00000549165.1:c.149_165del	ENSP00000450413.1:p.His50LeufsTer2
ENST00000549940.5:c.149_165del	ENSP00000449150.1:p.His50LeufsTer2
NM_024312.4:c.149_165del	NP_077288.2:p.His50LeufsTer2
XM_006719593.2:c.149_165del	XP_006719656.1:p.His50LeufsTer2
XM_011538731.1:c.68_84del	XP_011537033.1:p.His23LeufsTer2
XM_006719593.3:c.149_165del	XP_006719656.1:p.His50LeufsTer2
XM_011538731.2:c.68_84del	XP_011537033.1:p.His23LeufsTer2
XM_017019961.1:c.-68_-52del	XP_016875450.1:n.-68_-52del
XM_017019962.2:c.-1202_-1186del	XP_016875451.1:n.-1202_-1186del
NM_024312.5:c.149_165del MANE Select	NP_077288.2:p.His50LeufsTer2