Canonical Allele Identifier: CA1830493537

Gene: GLDC

Linked Data

• dbSNP Id: rs1817628575
• gnomAD v4: 9-6556228-GTTCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556232_6556236del , CM000671.2:g.6556232_6556236del	GRCh38
NC_000009.11:g.6556232_6556236del , CM000671.1:g.6556232_6556236del	GRCh37
NC_000009.10:g.6546232_6546236del	NCBI36
NG_016397.1:g.94460_94464del , LRG_643:g.94460_94464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2122_2126del MANE Select	ENSP00000370737.4:p.Glu708HisfsTer3
ENST00000638233.1:n.557_561del
ENST00000638661.1:c.322_326del	ENSP00000491369.1:p.Glu108HisfsTer3
ENST00000638694.1:n.309_313del
ENST00000639318.1:c.322_326del	ENSP00000491932.1:p.Glu108HisfsTer3
ENST00000639364.1:n.1822_1826del
ENST00000639443.1:n.1690_1694del
ENST00000639954.1:n.1830_1834del
ENST00000640505.1:n.361_365del
ENST00000321612.6:c.2122_2126del	ENSP00000370737.3:p.Glu708HisfsTer3
NM_000170.2:c.2122_2126del , LRG_643t1:c.2122_2126del	NP_000161.2:p.Glu708HisfsTer3
NM_000170.3:c.2122_2126del MANE Select	NP_000161.2:p.Glu708HisfsTer3