Canonical Allele Identifier: CA1830492886
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6555852_6555854delinsTTG , CM000671.2:g.6555852_6555854delinsTTG GRCh38
NC_000009.11:g.6555852_6555854delinsTTG , CM000671.1:g.6555852_6555854delinsTTG GRCh37
NC_000009.10:g.6545852_6545854delinsTTG NCBI36
NG_016397.1:g.94839_94841delinsCAA , LRG_643:g.94839_94841delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2202+299_2202+301delinsCAA MANE Select ENSP00000370737.4:n.2202+299_2202+301delinsCAA
ENST00000638233.1:n.637+299_637+301delinsCAA
ENST00000638661.1:c.402+299_402+301delinsCAA ENSP00000491369.1:n.402+299_402+301delinsCAA
ENST00000638694.1:n.389+299_389+301delinsCAA
ENST00000639318.1:c.402+299_402+301delinsCAA ENSP00000491932.1:n.402+299_402+301delinsCAA
ENST00000639364.1:n.1902+299_1902+301delinsCAA
ENST00000639443.1:n.1770+299_1770+301delinsCAA
ENST00000639954.1:n.1910+299_1910+301delinsCAA
ENST00000640505.1:n.441+299_441+301delinsCAA
ENST00000321612.6:c.2202+299_2202+301delinsCAA ENSP00000370737.3:n.2202+299_2202+301delinsCAA
NM_000170.2:c.2202+299_2202+301delinsCAA , LRG_643t1:c.2202+299_2202+301delinsCAA NP_000161.2:n.2202+299_2202+301delinsCAA
NM_000170.3:c.2202+299_2202+301delinsCAA MANE Select NP_000161.2:n.2202+299_2202+301delinsCAA