Canonical Allele Identifier: CA2580080260

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1726923
• ClinVar RCV Id: RCV002308398

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558594del , CM000671.2:g.6558594del	GRCh38
NC_000009.11:g.6558594del , CM000671.1:g.6558594del	GRCh37
NC_000009.10:g.6548594del	NCBI36
NG_016397.1:g.92099del , LRG_643:g.92099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2017del MANE Select	ENSP00000370737.4:p.Tyr673MetfsTer20
ENST00000460457.2:n.177del
ENST00000638233.1:n.452del
ENST00000638661.1:c.217del	ENSP00000491369.1:p.Tyr73MetfsTer20
ENST00000638694.1:n.204del
ENST00000639318.1:c.217del	ENSP00000491932.1:p.Tyr73MetfsTer20
ENST00000639364.1:n.1717del
ENST00000639443.1:n.1585del
ENST00000639954.1:n.1725del
ENST00000640208.1:c.217del	ENSP00000491895.1:p.Tyr73MetfsTer18
ENST00000640505.1:n.256del
ENST00000640592.1:n.1900del
ENST00000321612.6:c.2017del	ENSP00000370737.3:p.Tyr673MetfsTer20
ENST00000460457.1:n.156del
NM_000170.2:c.2017del , LRG_643t1:c.2017del	NP_000161.2:p.Tyr673MetfsTer20
NM_000170.3:c.2017del MANE Select	NP_000161.2:p.Tyr673MetfsTer20