Canonical Allele Identifier: CA1830493845
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1817632461
gnomAD v4: 9-6556420-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556422del , CM000671.2:g.6556422del GRCh38
NC_000009.11:g.6556422del , CM000671.1:g.6556422del GRCh37
NC_000009.10:g.6546422del NCBI36
NG_016397.1:g.94272del , LRG_643:g.94272del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2053-119del MANE Select ENSP00000370737.4:n.2053-119del
ENST00000638233.1:n.488-119del
ENST00000638661.1:c.253-119del ENSP00000491369.1:n.253-119del
ENST00000638694.1:n.240-119del
ENST00000639318.1:c.253-119del ENSP00000491932.1:n.253-119del
ENST00000639364.1:n.1753-119del
ENST00000639443.1:n.1621-119del
ENST00000639954.1:n.1761-119del
ENST00000640505.1:n.292-119del
ENST00000321612.6:c.2053-119del ENSP00000370737.3:n.2053-119del
NM_000170.2:c.2053-119del , LRG_643t1:c.2053-119del NP_000161.2:n.2053-119del
NM_000170.3:c.2053-119del MANE Select NP_000161.2:n.2053-119del