Canonical Allele Identifier: CA2058950548

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753412_101753414delinsACT , CM000674.2:g.101753412_101753414delinsACT	GRCh38
NC_000012.11:g.102147190_102147192delinsACT , CM000674.1:g.102147190_102147192delinsACT	GRCh37
NC_000012.10:g.100671321_100671323delinsACT	NCBI36
NG_021243.1:g.82454_82456delinsAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3560_3562delinsAGT MANE Select	ENSP00000299314.7:p.Glu1187=
ENST00000299314.11:c.3560_3562delinsAGT	ENSP00000299314.7:p.Glu1187=
ENST00000549738.5:c.458_460delinsAGT	ENSP00000450161.1:n.458_460delinsAGT
NM_024312.4:c.3560_3562delinsAGT	NP_077288.2:p.Glu1187=
XM_011538731.1:c.3479_3481delinsAGT	XP_011537033.1:p.Glu1160=
XM_011538731.2:c.3479_3481delinsAGT	XP_011537033.1:p.Glu1160=
XM_017019961.1:c.3344_3346delinsAGT	XP_016875450.1:p.Glu1115=
XM_017019962.2:c.2333_2335delinsAGT	XP_016875451.1:p.Glu778=
NM_024312.5:c.3560_3562delinsAGT MANE Select	NP_077288.2:p.Glu1187=