Canonical Allele Identifier: CA865903299
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1156836179
gnomAD v3: 9-6556617-AC-A
gnomAD v4: 9-6556617-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556621del , CM000671.2:g.6556621del GRCh38
NC_000009.11:g.6556621del , CM000671.1:g.6556621del GRCh37
NC_000009.10:g.6546621del NCBI36
NG_016397.1:g.94075del , LRG_643:g.94075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2053-316del MANE Select ENSP00000370737.4:n.2053-316del
ENST00000638233.1:n.488-316del
ENST00000638661.1:c.253-316del ENSP00000491369.1:n.253-316del
ENST00000638694.1:n.240-316del
ENST00000639318.1:c.253-316del ENSP00000491932.1:n.253-316del
ENST00000639364.1:n.1753-316del
ENST00000639443.1:n.1621-316del
ENST00000639954.1:n.1761-316del
ENST00000640505.1:n.292-316del
ENST00000321612.6:c.2053-316del ENSP00000370737.3:n.2053-316del
NM_000170.2:c.2053-316del , LRG_643t1:c.2053-316del NP_000161.2:n.2053-316del
NM_000170.3:c.2053-316del MANE Select NP_000161.2:n.2053-316del