Canonical Allele Identifier: CA2689362106
Gene: GLDC HGNC NCBI

Linked Data

gnomAD v4: 9-6592999-GA-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6593000del , CM000671.2:g.6593000del GRCh38
NC_000009.11:g.6593000del , CM000671.1:g.6593000del GRCh37
NC_000009.10:g.6583000del NCBI36
NG_016397.1:g.57693del , LRG_643:g.57693del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1262-10del MANE Select ENSP00000370737.4:n.1262-10del
ENST00000639364.1:n.962-10del
ENST00000639443.1:n.830-10del
ENST00000639493.1:n.414-10del
ENST00000639954.1:n.970-10del
ENST00000640592.1:n.1145-10del
ENST00000640703.1:n.95del
ENST00000321612.6:c.1262-10del ENSP00000370737.3:n.1262-10del
ENST00000463305.1:n.346-10del
NM_000170.2:c.1262-10del , LRG_643t1:c.1262-10del NP_000161.2:n.1262-10del
NM_000170.3:c.1262-10del MANE Select NP_000161.2:n.1262-10del