Canonical Allele Identifier: CA585762463

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2993058
• ClinVar RCV Id: RCV003850153
• dbSNP Id: rs1442992659
• gnomAD v2: 9-6534700-GA-G
• gnomAD v3: 9-6534700-GA-G
• gnomAD v4: 9-6534700-GA-G
• MyVariant Identifiers: chr9:g.6534701del (hg19) ; chr9:g.6534701del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6534702del , CM000671.2:g.6534702del	GRCh38
NC_000009.11:g.6534702del , CM000671.1:g.6534702del	GRCh37
NC_000009.10:g.6524702del	NCBI36
NG_016397.1:g.115992del , LRG_643:g.115992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2919+7del MANE Select	ENSP00000370737.4:n.2919+7del
ENST00000638233.1:n.1354+7del
ENST00000638274.1:c.71+7del
ENST00000638661.1:c.1119+7del	ENSP00000491369.1:n.1119+7del
ENST00000638694.1:n.1106+7del
ENST00000639318.1:c.1023+7del	ENSP00000491932.1:n.1023+7del
ENST00000639364.1:n.2619+7del
ENST00000639443.1:n.2487+7del
ENST00000639461.1:n.2020+7del
ENST00000639639.1:c.621+7del	ENSP00000491312.1:n.621+7del
ENST00000639954.1:n.2627+7del
ENST00000640505.1:n.1158+7del
ENST00000321612.6:c.2919+7del	ENSP00000370737.3:n.2919+7del
ENST00000477960.1:n.500+7del
NM_000170.2:c.2919+7del , LRG_643t1:c.2919+7del	NP_000161.2:n.2919+7del
NM_000170.3:c.2919+7del MANE Select	NP_000161.2:n.2919+7del