Canonical Allele Identifier: CA2579298355
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558605del , CM000671.2:g.6558605del GRCh38
NC_000009.11:g.6558605del , CM000671.1:g.6558605del GRCh37
NC_000009.10:g.6548605del NCBI36
NG_016397.1:g.92088del , LRG_643:g.92088del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2006del MANE Select ENSP00000370737.4:p.Glu669GlyfsTer24
ENST00000460457.2:n.166del
ENST00000638233.1:n.441del
ENST00000638661.1:c.206del ENSP00000491369.1:p.Glu69GlyfsTer24
ENST00000638694.1:n.193del
ENST00000639318.1:c.206del ENSP00000491932.1:p.Glu69GlyfsTer24
ENST00000639364.1:n.1706del
ENST00000639443.1:n.1574del
ENST00000639954.1:n.1714del
ENST00000640208.1:c.206del ENSP00000491895.1:p.Glu69GlyfsTer22
ENST00000640505.1:n.245del
ENST00000640592.1:n.1889del
ENST00000321612.6:c.2006del ENSP00000370737.3:p.Glu669GlyfsTer24
ENST00000460457.1:n.145del
NM_000170.2:c.2006del , LRG_643t1:c.2006del NP_000161.2:p.Glu669GlyfsTer24
NM_000170.3:c.2006del MANE Select NP_000161.2:p.Glu669GlyfsTer24