Canonical Allele Identifier: CA2689358785

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558626-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558627_6558628dup , CM000671.2:g.6558627_6558628dup	GRCh38
NC_000009.11:g.6558627_6558628dup , CM000671.1:g.6558627_6558628dup	GRCh37
NC_000009.10:g.6548627_6548628dup	NCBI36
NG_016397.1:g.92065_92066dup , LRG_643:g.92065_92066dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1983_1984dup MANE Select	ENSP00000370737.4:p.Gly662GlufsTer3
ENST00000460457.2:n.143_144dup
ENST00000638233.1:n.418_419dup
ENST00000638661.1:c.183_184dup	ENSP00000491369.1:p.Gly62GlufsTer3
ENST00000638694.1:n.170_171dup
ENST00000639318.1:c.183_184dup	ENSP00000491932.1:p.Gly62GlufsTer3
ENST00000639364.1:n.1683_1684dup
ENST00000639443.1:n.1551_1552dup
ENST00000639954.1:n.1691_1692dup
ENST00000640208.1:c.183_184dup	ENSP00000491895.1:p.Gly62GlufsTer3
ENST00000640505.1:n.222_223dup
ENST00000640592.1:n.1866_1867dup
ENST00000321612.6:c.1983_1984dup	ENSP00000370737.3:p.Gly662GlufsTer3
ENST00000460457.1:n.122_123dup
NM_000170.2:c.1983_1984dup , LRG_643t1:c.1983_1984dup	NP_000161.2:p.Gly662GlufsTer3
NM_000170.3:c.1983_1984dup MANE Select	NP_000161.2:p.Gly662GlufsTer3