Canonical Allele Identifier: CA2695210462
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556269del , CM000671.2:g.6556269del GRCh38
NC_000009.11:g.6556269del , CM000671.1:g.6556269del GRCh37
NC_000009.10:g.6546269del NCBI36
NG_016397.1:g.94424del , LRG_643:g.94424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2086del MANE Select ENSP00000370737.4:p.Met696Ter
ENST00000638233.1:n.521del
ENST00000638661.1:c.286del ENSP00000491369.1:p.Met96Ter
ENST00000638694.1:n.273del
ENST00000639318.1:c.286del ENSP00000491932.1:p.Met96Ter
ENST00000639364.1:n.1786del
ENST00000639443.1:n.1654del
ENST00000639954.1:n.1794del
ENST00000640505.1:n.325del
ENST00000321612.6:c.2086del ENSP00000370737.3:p.Met696Ter
NM_000170.2:c.2086del , LRG_643t1:c.2086del NP_000161.2:p.Met696Ter
NM_000170.3:c.2086del MANE Select NP_000161.2:p.Met696Ter