Canonical Allele Identifier: CA263337
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556200_6556202delinsTAAACCAGGA , CM000671.2:g.6556200_6556202delinsTAAACCAGGA GRCh38
NC_000009.11:g.6556200_6556202delinsTAAACCAGGA , CM000671.1:g.6556200_6556202delinsTAAACCAGGA GRCh37
NC_000009.10:g.6546200_6546202delinsTAAACCAGGA NCBI36
NG_016397.1:g.94491_94493delinsTCCTGGTTTA , LRG_643:g.94491_94493delinsTCCTGGTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2153_2155delinsTCCTGGTTTA MANE Select ENSP00000370737.4:p.His718LeufsTer4
ENST00000638233.1:n.588_590delinsTCCTGGTTTA
ENST00000638661.1:c.353_355delinsTCCTGGTTTA ENSP00000491369.1:p.His118LeufsTer4
ENST00000638694.1:n.340_342delinsTCCTGGTTTA
ENST00000639318.1:c.353_355delinsTCCTGGTTTA ENSP00000491932.1:p.His118LeufsTer4
ENST00000639364.1:n.1853_1855delinsTCCTGGTTTA
ENST00000639443.1:n.1721_1723delinsTCCTGGTTTA
ENST00000639954.1:n.1861_1863delinsTCCTGGTTTA
ENST00000640505.1:n.392_394delinsTCCTGGTTTA
ENST00000321612.6:c.2153_2155delinsTCCTGGTTTA ENSP00000370737.3:p.His718LeufsTer4
NM_000170.2:c.2153_2155delinsTCCTGGTTTA , LRG_643t1:c.2153_2155delinsTCCTGGTTTA NP_000161.2:p.His718LeufsTer4
NM_000170.3:c.2153_2155delinsTCCTGGTTTA MANE Select NP_000161.2:p.His718LeufsTer4