Canonical Allele Identifier: CA2648266264
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290086_155290087insCTG , CM000663.2:g.155290086_155290087insCTG GRCh38
NC_000001.10:g.155259877_155259878insCTG , CM000663.1:g.155259877_155259878insCTG GRCh37
NC_000001.9:g.153526501_153526502insCTG NCBI36
NG_011677.1:g.16350_16351insGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*487_*488insGCA MANE Select ENSP00000339933.4:n.*487_*488insGCA
ENST00000392414.7:c.*487_*488insGCA ENSP00000376214.3:n.*487_*488insGCA
NM_000298.5:c.*487_*488insGCA NP_000289.1:n.*487_*488insGCA
NM_181871.3:c.*487_*488insGCA NP_870986.1:n.*487_*488insGCA
NM_000298.6:c.*487_*488insGCA MANE Select NP_000289.1:n.*487_*488insGCA
NM_181871.4:c.*487_*488insGCA NP_870986.1:n.*487_*488insGCA