Canonical Allele Identifier: CA188650926
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs867370329

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556172delinsGATCT , CM000671.2:g.6556172delinsGATCT GRCh38
NC_000009.11:g.6556172delinsGATCT , CM000671.1:g.6556172delinsGATCT GRCh37
NC_000009.10:g.6546172delinsGATCT NCBI36
NG_016397.1:g.94521delinsAGATC , LRG_643:g.94521delinsAGATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2183delinsAGATC MANE Select ENSP00000370737.4:p.Gly728GlufsTer20
ENST00000638233.1:n.618delinsAGATC
ENST00000638661.1:c.383delinsAGATC ENSP00000491369.1:p.Gly128GlufsTer20
ENST00000638694.1:n.370delinsAGATC
ENST00000639318.1:c.383delinsAGATC ENSP00000491932.1:p.Gly128GlufsTer20
ENST00000639364.1:n.1883delinsAGATC
ENST00000639443.1:n.1751delinsAGATC
ENST00000639954.1:n.1891delinsAGATC
ENST00000640505.1:n.422delinsAGATC
ENST00000321612.6:c.2183delinsAGATC ENSP00000370737.3:p.Gly728GlufsTer20
NM_000170.2:c.2183delinsAGATC , LRG_643t1:c.2183delinsAGATC NP_000161.2:p.Gly728GlufsTer20
NM_000170.3:c.2183delinsAGATC MANE Select NP_000161.2:p.Gly728GlufsTer20