Canonical Allele Identifier: CA2695210469
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595095del , CM000671.2:g.6595095del GRCh38
NC_000009.11:g.6595095del , CM000671.1:g.6595095del GRCh37
NC_000009.10:g.6585095del NCBI36
NG_016397.1:g.55598del , LRG_643:g.55598del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.1180del MANE Select ENSP00000370737.4:p.Met394CysfsTer23
ENST00000638654.1:c.427del ENSP00000491101.1:p.Met143CysfsTer?
ENST00000639364.1:n.880del
ENST00000639443.1:n.748del
ENST00000639493.1:n.332del
ENST00000639954.1:n.888del
ENST00000640592.1:n.1063del
ENST00000321612.6:c.1180del ENSP00000370737.3:p.Met394CysfsTer23
ENST00000463305.1:n.264del
NM_000170.2:c.1180del , LRG_643t1:c.1180del NP_000161.2:p.Met394CysfsTer23
NM_000170.3:c.1180del MANE Select NP_000161.2:p.Met394CysfsTer23