Canonical Allele Identifier: CA2573144490

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1456116
• ClinVar RCV Id: RCV001946796
• dbSNP Id: rs2129726392

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556245del , CM000671.2:g.6556245del	GRCh38
NC_000009.11:g.6556245del , CM000671.1:g.6556245del	GRCh37
NC_000009.10:g.6546245del	NCBI36
NG_016397.1:g.94451del , LRG_643:g.94451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2113del MANE Select	ENSP00000370737.4:p.Val705CysfsTer22
ENST00000638233.1:n.548del
ENST00000638661.1:c.313del	ENSP00000491369.1:p.Val105CysfsTer22
ENST00000638694.1:n.300del
ENST00000639318.1:c.313del	ENSP00000491932.1:p.Val105CysfsTer22
ENST00000639364.1:n.1813del
ENST00000639443.1:n.1681del
ENST00000639954.1:n.1821del
ENST00000640505.1:n.352del
ENST00000321612.6:c.2113del	ENSP00000370737.3:p.Val705CysfsTer22
NM_000170.2:c.2113del , LRG_643t1:c.2113del	NP_000161.2:p.Val705CysfsTer22
NM_000170.3:c.2113del MANE Select	NP_000161.2:p.Val705CysfsTer22