Canonical Allele Identifier: CA865901917
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1351576837
gnomAD v3: 9-6555830-AC-A
gnomAD v4: 9-6555830-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555832del , CM000671.2:g.6555832del GRCh38
NC_000009.11:g.6555832del , CM000671.1:g.6555832del GRCh37
NC_000009.10:g.6545832del NCBI36
NG_016397.1:g.94862del , LRG_643:g.94862del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+322del MANE Select ENSP00000370737.4:n.2202+322del
ENST00000638233.1:n.637+322del
ENST00000638661.1:c.402+322del ENSP00000491369.1:n.402+322del
ENST00000638694.1:n.389+322del
ENST00000639318.1:c.402+322del ENSP00000491932.1:n.402+322del
ENST00000639364.1:n.1902+322del
ENST00000639443.1:n.1770+322del
ENST00000639954.1:n.1910+322del
ENST00000640505.1:n.441+322del
ENST00000321612.6:c.2202+322del ENSP00000370737.3:n.2202+322del
NM_000170.2:c.2202+322del , LRG_643t1:c.2202+322del NP_000161.2:n.2202+322del
NM_000170.3:c.2202+322del MANE Select NP_000161.2:n.2202+322del