Canonical Allele Identifier: CA2689362387
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6595121-TA-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595125del , CM000671.2:g.6595125del GRCh38
NC_000009.11:g.6595125del , CM000671.1:g.6595125del GRCh37
NC_000009.10:g.6585125del NCBI36
NG_016397.1:g.55571del , LRG_643:g.55571del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1156-3del MANE Select ENSP00000370737.4:n.1156-3del
ENST00000638654.1:c.403-3del ENSP00000491101.1:n.403-3del
ENST00000639364.1:n.856-3del
ENST00000639443.1:n.724-3del
ENST00000639493.1:n.308-3del
ENST00000639954.1:n.864-3del
ENST00000640592.1:n.1039-3del
ENST00000321612.6:c.1156-3del ENSP00000370737.3:n.1156-3del
ENST00000463305.1:n.240-3del
NM_000170.2:c.1156-3del , LRG_643t1:c.1156-3del NP_000161.2:n.1156-3del
NM_000170.3:c.1156-3del MANE Select NP_000161.2:n.1156-3del