Canonical Allele Identifier: CA2058953202

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761720_101761722delinsCTA , CM000674.2:g.101761720_101761722delinsCTA	GRCh38
NC_000012.11:g.102155498_102155500delinsCTA , CM000674.1:g.102155498_102155500delinsCTA	GRCh37
NC_000012.10:g.100679629_100679631delinsCTA	NCBI36
NG_021243.1:g.74146_74148delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2757_2759delinsTAG MANE Select	ENSP00000299314.7:p.Asp919=
ENST00000299314.11:c.2757_2759delinsTAG	ENSP00000299314.7:p.Asp919=
NM_024312.4:c.2757_2759delinsTAG	NP_077288.2:p.Asp919=
XM_006719593.2:c.2757_2759delinsTAG	XP_006719656.1:p.Asp919=
XM_011538731.1:c.2676_2678delinsTAG	XP_011537033.1:p.Asp892=
XM_006719593.3:c.2757_2759delinsTAG	XP_006719656.1:p.Asp919=
XM_011538731.2:c.2676_2678delinsTAG	XP_011537033.1:p.Asp892=
XM_017019961.1:c.2541_2543delinsTAG	XP_016875450.1:p.Asp847=
XM_017019962.2:c.1530_1532delinsTAG	XP_016875451.1:p.Asp510=
NM_024312.5:c.2757_2759delinsTAG MANE Select	NP_077288.2:p.Asp919=