Canonical Allele Identifier: CA263350
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56067
ClinVar RCV Id: RCV000049476
dbSNP Id: rs121964975

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6554717_6554719del , CM000671.2:g.6554717_6554719del GRCh38
NC_000009.11:g.6554717_6554719del , CM000671.1:g.6554717_6554719del GRCh37
NC_000009.10:g.6544717_6544719del NCBI36
NG_016397.1:g.95976_95978del , LRG_643:g.95976_95978del

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2267_2269del MANE Select ENSP00000370737.4:p.Phe756del
ENST00000638233.1:n.702_704del
ENST00000638661.1:c.467_469del ENSP00000491369.1:p.Phe156del
ENST00000638694.1:n.454_456del
ENST00000639318.1:c.467_469del ENSP00000491932.1:p.Phe156del
ENST00000639364.1:n.1967_1969del
ENST00000639443.1:n.1835_1837del
ENST00000639639.1:c.-32_-30del ENSP00000491312.1:n.-32_-30del
ENST00000639954.1:n.1975_1977del
ENST00000640505.1:n.506_508del
ENST00000321612.6:c.2267_2269del ENSP00000370737.3:p.Phe756del
ENST00000467946.1:n.193_195del
NM_000170.2:c.2267_2269del , LRG_643t1:c.2267_2269del NP_000161.2:p.Phe756del
NM_000170.3:c.2267_2269del MANE Select NP_000161.2:p.Phe756del