Canonical Allele Identifier: CA1200112182

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294482_155294483delinsCT , CM000663.2:g.155294482_155294483delinsCT	GRCh38
NC_000001.10:g.155264273_155264274delinsCT , CM000663.1:g.155264273_155264274delinsCT	GRCh37
NC_000001.9:g.153530897_153530898delinsCT	NCBI36
NG_011677.1:g.11952_11953delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.964_965delinsAG MANE Select	ENSP00000339933.4:p.Arg322=
ENST00000342741.4:c.964_965delinsAG	ENSP00000339933.4:p.Arg322=
ENST00000392414.7:c.871_872delinsAG	ENSP00000376214.3:p.Arg291=
NM_000298.5:c.964_965delinsAG	NP_000289.1:p.Arg322=
NM_181871.3:c.871_872delinsAG	NP_870986.1:p.Arg291=
XM_005245266.3:c.1123_1124delinsAG	XP_005245323.1:p.Arg375=
XM_006711386.2:c.772_773delinsAG	XP_006711449.1:p.Arg258=
XM_011509639.1:c.1123_1124delinsAG	XP_011507941.1:p.Arg375=
XM_011509640.1:c.772_773delinsAG	XP_011507942.1:p.Arg258=
NM_000298.6:c.964_965delinsAG MANE Select	NP_000289.1:p.Arg322=
XM_006711386.4:c.772_773delinsAG	XP_006711449.1:p.Arg258=
XM_011509640.3:c.772_773delinsAG	XP_011507942.1:p.Arg258=
XM_017001493.1:c.964_965delinsAG	XP_016856982.1:p.Arg322=
NM_181871.4:c.871_872delinsAG	NP_870986.1:p.Arg291=