Canonical Allele Identifier: CA2689357986

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556099-TCCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556100_6556103del , CM000671.2:g.6556100_6556103del	GRCh38
NC_000009.11:g.6556100_6556103del , CM000671.1:g.6556100_6556103del	GRCh37
NC_000009.10:g.6546100_6546103del	NCBI36
NG_016397.1:g.94590_94593del , LRG_643:g.94590_94593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2202+50_2202+53del MANE Select	ENSP00000370737.4:n.2202+50_2202+53del
ENST00000638233.1:n.637+50_637+53del
ENST00000638661.1:c.402+50_402+53del	ENSP00000491369.1:n.402+50_402+53del
ENST00000638694.1:n.389+50_389+53del
ENST00000639318.1:c.402+50_402+53del	ENSP00000491932.1:n.402+50_402+53del
ENST00000639364.1:n.1902+50_1902+53del
ENST00000639443.1:n.1770+50_1770+53del
ENST00000639954.1:n.1910+50_1910+53del
ENST00000640505.1:n.441+50_441+53del
ENST00000321612.6:c.2202+50_2202+53del	ENSP00000370737.3:n.2202+50_2202+53del
NM_000170.2:c.2202+50_2202+53del , LRG_643t1:c.2202+50_2202+53del	NP_000161.2:n.2202+50_2202+53del
NM_000170.3:c.2202+50_2202+53del MANE Select	NP_000161.2:n.2202+50_2202+53del