Canonical Allele Identifier: CA1200112606

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295412_155295414delinsAGC , CM000663.2:g.155295412_155295414delinsAGC	GRCh38
NC_000001.10:g.155265203_155265205delinsAGC , CM000663.1:g.155265203_155265205delinsAGC	GRCh37
NC_000001.9:g.153531827_153531829delinsAGC	NCBI36
NG_011677.1:g.11021_11023delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.507+23_507+25delinsGCT MANE Select	ENSP00000339933.4:n.507+23_507+25delinsGCT
ENST00000434082.3:c.315+23_315+25delinsGCT	ENSP00000398037.3:n.315+23_315+25delinsGCT
ENST00000342741.4:c.507+23_507+25delinsGCT	ENSP00000339933.4:n.507+23_507+25delinsGCT
ENST00000392414.7:c.414+23_414+25delinsGCT	ENSP00000376214.3:n.414+23_414+25delinsGCT
ENST00000434082.2:c.412+23_412+25delinsGCT	ENSP00000398037.2:n.412+23_412+25delinsGCT
NM_000298.5:c.507+23_507+25delinsGCT	NP_000289.1:n.507+23_507+25delinsGCT
NM_181871.3:c.414+23_414+25delinsGCT	NP_870986.1:n.414+23_414+25delinsGCT
XM_005245266.3:c.666+23_666+25delinsGCT	XP_005245323.1:n.666+23_666+25delinsGCT
XM_006711386.2:c.315+23_315+25delinsGCT	XP_006711449.1:n.315+23_315+25delinsGCT
XM_011509639.1:c.666+23_666+25delinsGCT	XP_011507941.1:n.666+23_666+25delinsGCT
XM_011509640.1:c.315+23_315+25delinsGCT	XP_011507942.1:n.315+23_315+25delinsGCT
NM_000298.6:c.507+23_507+25delinsGCT MANE Select	NP_000289.1:n.507+23_507+25delinsGCT
XM_006711386.4:c.315+23_315+25delinsGCT	XP_006711449.1:n.315+23_315+25delinsGCT
XM_011509640.3:c.315+23_315+25delinsGCT	XP_011507942.1:n.315+23_315+25delinsGCT
XM_017001493.1:c.507+23_507+25delinsGCT	XP_016856982.1:n.507+23_507+25delinsGCT
NM_181871.4:c.414+23_414+25delinsGCT	NP_870986.1:n.414+23_414+25delinsGCT