Canonical Allele Identifier: CA10627485
Community Standard Title: NM_000170.3(GLDC):c.*505_*506del
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6532522_6532523del , CM000671.2:g.6532522_6532523del GRCh38
NC_000009.11:g.6532522_6532523del , CM000671.1:g.6532522_6532523del GRCh37
NC_000009.10:g.6522522_6522523del NCBI36
NG_016397.1:g.118181_118182del , LRG_643:g.118181_118182del

Transcript Alleles

HGVS Amino-acid Change
NM_000170.3:c.*505_*506del MANE Select NP_000161.2:n.*505_*506del
ENST00000321612.8:c.*505_*506del MANE Select ENSP00000370737.4:n.*505_*506del
NM_000170.2:c.*505_*506del , LRG_643t1:c.*505_*506del NP_000161.2:n.*505_*506del
ENST00000321612.6:c.*505_*506del ENSP00000370737.3:n.*505_*506del
ENST00000638233.1:n.2003_2004del
ENST00000638274.1:c.833_834del
ENST00000638661.1:c.*505_*506del ENSP00000491369.1:n.*505_*506del
ENST00000639364.1:n.3268_3269del
ENST00000639461.1:n.2669_2670del
ENST00000639639.1:c.*505_*506del ENSP00000491312.1:n.*505_*506del
ENST00000639954.1:n.3276_3277del
ENST00000640505.1:n.1807_1808del