Canonical Allele Identifier: CA2689358821

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558586-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558588del , CM000671.2:g.6558588del	GRCh38
NC_000009.11:g.6558588del , CM000671.1:g.6558588del	GRCh37
NC_000009.10:g.6548588del	NCBI36
NG_016397.1:g.92106del , LRG_643:g.92106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2024del MANE Select	ENSP00000370737.4:p.Asn675IlefsTer18
ENST00000460457.2:n.184del
ENST00000638233.1:n.459del
ENST00000638661.1:c.224del	ENSP00000491369.1:p.Asn75IlefsTer18
ENST00000638694.1:n.211del
ENST00000639318.1:c.224del	ENSP00000491932.1:p.Asn75IlefsTer18
ENST00000639364.1:n.1724del
ENST00000639443.1:n.1592del
ENST00000639954.1:n.1732del
ENST00000640208.1:c.224del	ENSP00000491895.1:p.Asn75IlefsTer16
ENST00000640505.1:n.263del
ENST00000640592.1:n.1907del
ENST00000321612.6:c.2024del	ENSP00000370737.3:p.Asn675IlefsTer18
ENST00000460457.1:n.163del
NM_000170.2:c.2024del , LRG_643t1:c.2024del	NP_000161.2:p.Asn675IlefsTer18
NM_000170.3:c.2024del MANE Select	NP_000161.2:p.Asn675IlefsTer18