Canonical Allele Identifier: CA2058969447

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796708_101796709delinsCT , CM000674.2:g.101796708_101796709delinsCT	GRCh38
NC_000012.11:g.102190486_102190487delinsCT , CM000674.1:g.102190486_102190487delinsCT	GRCh37
NC_000012.10:g.100714617_100714618delinsCT	NCBI36
NG_021243.1:g.39159_39160delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.171_172delinsAG MANE Select	ENSP00000299314.7:p.Arg57=
ENST00000647144.1:n.291_292delinsAG
ENST00000299314.11:c.171_172delinsAG	ENSP00000299314.7:p.Arg57=
ENST00000392919.4:c.171_172delinsAG	ENSP00000376651.4:p.Arg57=
ENST00000549165.1:c.171_172delinsAG	ENSP00000450413.1:p.Arg57=
ENST00000549940.5:c.171_172delinsAG	ENSP00000449150.1:p.Arg57=
NM_024312.4:c.171_172delinsAG	NP_077288.2:p.Arg57=
XM_006719593.2:c.171_172delinsAG	XP_006719656.1:p.Arg57=
XM_011538731.1:c.90_91delinsAG	XP_011537033.1:p.Arg30=
XM_006719593.3:c.171_172delinsAG	XP_006719656.1:p.Arg57=
XM_011538731.2:c.90_91delinsAG	XP_011537033.1:p.Arg30=
XM_017019961.1:c.-46_-45delinsAG	XP_016875450.1:n.-46_-45delinsAG
XM_017019962.2:c.-1180_-1179delinsAG	XP_016875451.1:n.-1180_-1179delinsAG
NM_024312.5:c.171_172delinsAG MANE Select	NP_077288.2:p.Arg57=