Canonical Allele Identifier: CA2689358795

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558516-CCCCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558520_6558524del , CM000671.2:g.6558520_6558524del	GRCh38
NC_000009.11:g.6558520_6558524del , CM000671.1:g.6558520_6558524del	GRCh37
NC_000009.10:g.6548520_6548524del	NCBI36
NG_016397.1:g.92172_92176del , LRG_643:g.92172_92176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+38_2052+42del MANE Select	ENSP00000370737.4:n.2052+38_2052+42del
ENST00000460457.2:n.212+38_212+42del
ENST00000638233.1:n.487+38_487+42del
ENST00000638661.1:c.252+38_252+42del	ENSP00000491369.1:n.252+38_252+42del
ENST00000638694.1:n.239+38_239+42del
ENST00000639318.1:c.252+38_252+42del	ENSP00000491932.1:n.252+38_252+42del
ENST00000639364.1:n.1752+38_1752+42del
ENST00000639443.1:n.1620+38_1620+42del
ENST00000639954.1:n.1760+38_1760+42del
ENST00000640208.1:c.290_294del	ENSP00000491895.1:p.Asp97GlyfsTer?
ENST00000640505.1:n.291+38_291+42del
ENST00000640592.1:n.1973_1977del
ENST00000321612.6:c.2052+38_2052+42del	ENSP00000370737.3:n.2052+38_2052+42del
ENST00000460457.1:n.229_233del
NM_000170.2:c.2052+38_2052+42del , LRG_643t1:c.2052+38_2052+42del	NP_000161.2:n.2052+38_2052+42del
NM_000170.3:c.2052+38_2052+42del MANE Select	NP_000161.2:n.2052+38_2052+42del