Canonical Allele Identifier: CA2689358851
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6558790-GT-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558795del , CM000671.2:g.6558795del GRCh38
NC_000009.11:g.6558795del , CM000671.1:g.6558795del GRCh37
NC_000009.10:g.6548795del NCBI36
NG_016397.1:g.91902del , LRG_643:g.91902del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1927-107del MANE Select ENSP00000370737.4:n.1927-107del
ENST00000460457.2:n.87-107del
ENST00000638233.1:n.362-107del
ENST00000638661.1:c.127-107del ENSP00000491369.1:n.127-107del
ENST00000638694.1:n.114-107del
ENST00000639318.1:c.127-107del ENSP00000491932.1:n.127-107del
ENST00000639364.1:n.1627-107del
ENST00000639443.1:n.1495-107del
ENST00000639954.1:n.1635-107del
ENST00000640208.1:c.127-107del ENSP00000491895.1:n.127-107del
ENST00000640505.1:n.166-107del
ENST00000640592.1:n.1810-107del
ENST00000321612.6:c.1927-107del ENSP00000370737.3:n.1927-107del
ENST00000460457.1:n.66-107del
NM_000170.2:c.1927-107del , LRG_643t1:c.1927-107del NP_000161.2:n.1927-107del
NM_000170.3:c.1927-107del MANE Select NP_000161.2:n.1927-107del