Canonical Allele Identifier: CA1830493075
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555959_6555960delinsCA , CM000671.2:g.6555959_6555960delinsCA GRCh38
NC_000009.11:g.6555959_6555960delinsCA , CM000671.1:g.6555959_6555960delinsCA GRCh37
NC_000009.10:g.6545959_6545960delinsCA NCBI36
NG_016397.1:g.94733_94734delinsTG , LRG_643:g.94733_94734delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+193_2202+194delinsTG MANE Select ENSP00000370737.4:n.2202+193_2202+194delinsTG
ENST00000638233.1:n.637+193_637+194delinsTG
ENST00000638661.1:c.402+193_402+194delinsTG ENSP00000491369.1:n.402+193_402+194delinsTG
ENST00000638694.1:n.389+193_389+194delinsTG
ENST00000639318.1:c.402+193_402+194delinsTG ENSP00000491932.1:n.402+193_402+194delinsTG
ENST00000639364.1:n.1902+193_1902+194delinsTG
ENST00000639443.1:n.1770+193_1770+194delinsTG
ENST00000639954.1:n.1910+193_1910+194delinsTG
ENST00000640505.1:n.441+193_441+194delinsTG
ENST00000321612.6:c.2202+193_2202+194delinsTG ENSP00000370737.3:n.2202+193_2202+194delinsTG
NM_000170.2:c.2202+193_2202+194delinsTG , LRG_643t1:c.2202+193_2202+194delinsTG NP_000161.2:n.2202+193_2202+194delinsTG
NM_000170.3:c.2202+193_2202+194delinsTG MANE Select NP_000161.2:n.2202+193_2202+194delinsTG