Canonical Allele Identifier: CA2648266378
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290230del , CM000663.2:g.155290230del GRCh38
NC_000001.10:g.155260021del , CM000663.1:g.155260021del GRCh37
NC_000001.9:g.153526645del NCBI36
NG_011677.1:g.16208del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*345del MANE Select ENSP00000339933.4:n.*345del
ENST00000392414.7:c.*345del ENSP00000376214.3:n.*345del
NM_000298.5:c.*345del NP_000289.1:n.*345del
NM_181871.3:c.*345del NP_870986.1:n.*345del
NM_000298.6:c.*345del MANE Select NP_000289.1:n.*345del
NM_181871.4:c.*345del NP_870986.1:n.*345del