Canonical Allele Identifier: CA1830492790
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555773_6555775delinsCAG , CM000671.2:g.6555773_6555775delinsCAG GRCh38
NC_000009.11:g.6555773_6555775delinsCAG , CM000671.1:g.6555773_6555775delinsCAG GRCh37
NC_000009.10:g.6545773_6545775delinsCAG NCBI36
NG_016397.1:g.94918_94920delinsCTG , LRG_643:g.94918_94920delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+378_2202+380delinsCTG MANE Select ENSP00000370737.4:n.2202+378_2202+380delinsCTG
ENST00000638233.1:n.637+378_637+380delinsCTG
ENST00000638661.1:c.402+378_402+380delinsCTG ENSP00000491369.1:n.402+378_402+380delinsCTG
ENST00000638694.1:n.389+378_389+380delinsCTG
ENST00000639318.1:c.402+378_402+380delinsCTG ENSP00000491932.1:n.402+378_402+380delinsCTG
ENST00000639364.1:n.1902+378_1902+380delinsCTG
ENST00000639443.1:n.1770+378_1770+380delinsCTG
ENST00000639954.1:n.1910+378_1910+380delinsCTG
ENST00000640505.1:n.441+378_441+380delinsCTG
ENST00000321612.6:c.2202+378_2202+380delinsCTG ENSP00000370737.3:n.2202+378_2202+380delinsCTG
NM_000170.2:c.2202+378_2202+380delinsCTG , LRG_643t1:c.2202+378_2202+380delinsCTG NP_000161.2:n.2202+378_2202+380delinsCTG
NM_000170.3:c.2202+378_2202+380delinsCTG MANE Select NP_000161.2:n.2202+378_2202+380delinsCTG