Canonical Allele Identifier: CA865901925
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1367834865
gnomAD v3: 9-6555837-AG-A
gnomAD v4: 9-6555837-AG-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555838del , CM000671.2:g.6555838del GRCh38
NC_000009.11:g.6555838del , CM000671.1:g.6555838del GRCh37
NC_000009.10:g.6545838del NCBI36
NG_016397.1:g.94855del , LRG_643:g.94855del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+315del MANE Select ENSP00000370737.4:n.2202+315del
ENST00000638233.1:n.637+315del
ENST00000638661.1:c.402+315del ENSP00000491369.1:n.402+315del
ENST00000638694.1:n.389+315del
ENST00000639318.1:c.402+315del ENSP00000491932.1:n.402+315del
ENST00000639364.1:n.1902+315del
ENST00000639443.1:n.1770+315del
ENST00000639954.1:n.1910+315del
ENST00000640505.1:n.441+315del
ENST00000321612.6:c.2202+315del ENSP00000370737.3:n.2202+315del
NM_000170.2:c.2202+315del , LRG_643t1:c.2202+315del NP_000161.2:n.2202+315del
NM_000170.3:c.2202+315del MANE Select NP_000161.2:n.2202+315del