Canonical Allele Identifier: CA2058953121

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952998532

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761667_101761668insCATGCTAAATTT , CM000674.2:g.101761667_101761668insCATGCTAAATTT	GRCh38
NC_000012.11:g.102155445_102155446insCATGCTAAATTT , CM000674.1:g.102155445_102155446insCATGCTAAATTT	GRCh37
NC_000012.10:g.100679576_100679577insCATGCTAAATTT	NCBI36
NG_021243.1:g.74200_74201insAAATTTAGCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2811_2812insAAATTTAGCATG MANE Select	ENSP00000299314.7:p.Tyr937_Val938insLysPheSerMet
ENST00000299314.11:c.2811_2812insAAATTTAGCATG	ENSP00000299314.7:p.Tyr937_Val938insLysPheSerMet
NM_024312.4:c.2811_2812insAAATTTAGCATG	NP_077288.2:p.Tyr937_Val938insLysPheSerMet
XM_006719593.2:c.2811_2812insAAATTTAGCATG	XP_006719656.1:p.Tyr937_Val938insLysPheSerMet
XM_011538731.1:c.2730_2731insAAATTTAGCATG	XP_011537033.1:p.Tyr910_Val911insLysPheSerMet
XM_006719593.3:c.2811_2812insAAATTTAGCATG	XP_006719656.1:p.Tyr937_Val938insLysPheSerMet
XM_011538731.2:c.2730_2731insAAATTTAGCATG	XP_011537033.1:p.Tyr910_Val911insLysPheSerMet
XM_017019961.1:c.2595_2596insAAATTTAGCATG	XP_016875450.1:p.Tyr865_Val866insLysPheSerMet
XM_017019962.2:c.1584_1585insAAATTTAGCATG	XP_016875451.1:p.Tyr528_Val529insLysPheSerMet
NM_024312.5:c.2811_2812insAAATTTAGCATG MANE Select	NP_077288.2:p.Tyr937_Val938insLysPheSerMet