Canonical Allele Identifier: CA2695210461

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556201_6556203delinsTAAACCAGGA , CM000671.2:g.6556201_6556203delinsTAAACCAGGA	GRCh38
NC_000009.11:g.6556201_6556203delinsTAAACCAGGA , CM000671.1:g.6556201_6556203delinsTAAACCAGGA	GRCh37
NC_000009.10:g.6546201_6546203delinsTAAACCAGGA	NCBI36
NG_016397.1:g.94490_94492delinsTCCTGGTTTA , LRG_643:g.94490_94492delinsTCCTGGTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2152_2154delinsTCCTGGTTTA MANE Select	ENSP00000370737.4:p.His718SerfsTer31
ENST00000638233.1:n.587_589delinsTCCTGGTTTA
ENST00000638661.1:c.352_354delinsTCCTGGTTTA	ENSP00000491369.1:p.His118SerfsTer31
ENST00000638694.1:n.339_341delinsTCCTGGTTTA
ENST00000639318.1:c.352_354delinsTCCTGGTTTA	ENSP00000491932.1:p.His118SerfsTer31
ENST00000639364.1:n.1852_1854delinsTCCTGGTTTA
ENST00000639443.1:n.1720_1722delinsTCCTGGTTTA
ENST00000639954.1:n.1860_1862delinsTCCTGGTTTA
ENST00000640505.1:n.391_393delinsTCCTGGTTTA
ENST00000321612.6:c.2152_2154delinsTCCTGGTTTA	ENSP00000370737.3:p.His718SerfsTer31
NM_000170.2:c.2152_2154delinsTCCTGGTTTA , LRG_643t1:c.2152_2154delinsTCCTGGTTTA	NP_000161.2:p.His718SerfsTer31
NM_000170.3:c.2152_2154delinsTCCTGGTTTA MANE Select	NP_000161.2:p.His718SerfsTer31