Canonical Allele Identifier: CA2481224782

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290521_155290522delinsAG , CM000663.2:g.155290521_155290522delinsAG	GRCh38
NC_000001.10:g.155260312_155260313delinsAG , CM000663.1:g.155260312_155260313delinsAG	GRCh37
NC_000001.9:g.153526936_153526937delinsAG	NCBI36
NG_011677.1:g.15913_15914delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*50_*51delinsCT MANE Select	ENSP00000339933.4:n.*50_*51delinsCT
ENST00000342741.4:c.*50_*51delinsCT	ENSP00000339933.4:n.*50_*51delinsCT
ENST00000392414.7:c.*50_*51delinsCT	ENSP00000376214.3:n.*50_*51delinsCT
NM_000298.5:c.*50_*51delinsCT	NP_000289.1:n.*50_*51delinsCT
NM_181871.3:c.*50_*51delinsCT	NP_870986.1:n.*50_*51delinsCT
XM_005245266.3:c.*50_*51delinsCT	XP_005245323.1:n.*50_*51delinsCT
XM_006711386.2:c.*50_*51delinsCT	XP_006711449.1:n.*50_*51delinsCT
XM_011509640.1:c.*50_*51delinsCT	XP_011507942.1:n.*50_*51delinsCT
NM_000298.6:c.*50_*51delinsCT MANE Select	NP_000289.1:n.*50_*51delinsCT
XM_006711386.4:c.*50_*51delinsCT	XP_006711449.1:n.*50_*51delinsCT
XM_011509640.3:c.*50_*51delinsCT	XP_011507942.1:n.*50_*51delinsCT
NM_181871.4:c.*50_*51delinsCT	NP_870986.1:n.*50_*51delinsCT