Canonical Allele Identifier: CA1148459159

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295409_155295424delinsCCCAGCGAGTCCCAGC , CM000663.2:g.155295409_155295424delinsCCCAGCGAGTCCCAGC	GRCh38
NC_000001.10:g.155265200_155265215delinsCCCAGCGAGTCCCAGC , CM000663.1:g.155265200_155265215delinsCCCAGCGAGTCCCAGC	GRCh37
NC_000001.9:g.153531824_153531839delinsCCCAGCGAGTCCCAGC	NCBI36
NG_011677.1:g.11011_11026delinsGCTGGGACTCGCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.507+13_507+28delinsGCTGGGACTCGCTGGG MANE Select	ENSP00000339933.4:n.507+13_507+28delinsGCTGGGACTCGCTGGG
ENST00000434082.3:c.315+13_315+28delinsGCTGGGACTCGCTGGG	ENSP00000398037.3:n.315+13_315+28delinsGCTGGGACTCGCTGGG
ENST00000342741.4:c.507+13_507+28delinsGCTGGGACTCGCTGGG	ENSP00000339933.4:n.507+13_507+28delinsGCTGGGACTCGCTGGG
ENST00000392414.7:c.414+13_414+28delinsGCTGGGACTCGCTGGG	ENSP00000376214.3:n.414+13_414+28delinsGCTGGGACTCGCTGGG
ENST00000434082.2:c.412+13_412+28delinsGCTGGGACTCGCTGGG	ENSP00000398037.2:n.412+13_412+28delinsGCTGGGACTCGCTGGG
NM_000298.5:c.507+13_507+28delinsGCTGGGACTCGCTGGG	NP_000289.1:n.507+13_507+28delinsGCTGGGACTCGCTGGG
NM_181871.3:c.414+13_414+28delinsGCTGGGACTCGCTGGG	NP_870986.1:n.414+13_414+28delinsGCTGGGACTCGCTGGG
XM_005245266.3:c.666+13_666+28delinsGCTGGGACTCGCTGGG	XP_005245323.1:n.666+13_666+28delinsGCTGGGACTCGCTGGG
XM_006711386.2:c.315+13_315+28delinsGCTGGGACTCGCTGGG	XP_006711449.1:n.315+13_315+28delinsGCTGGGACTCGCTGGG
XM_011509639.1:c.666+13_666+28delinsGCTGGGACTCGCTGGG	XP_011507941.1:n.666+13_666+28delinsGCTGGGACTCGCTGGG
XM_011509640.1:c.315+13_315+28delinsGCTGGGACTCGCTGGG	XP_011507942.1:n.315+13_315+28delinsGCTGGGACTCGCTGGG
NM_000298.6:c.507+13_507+28delinsGCTGGGACTCGCTGGG MANE Select	NP_000289.1:n.507+13_507+28delinsGCTGGGACTCGCTGGG
XM_006711386.4:c.315+13_315+28delinsGCTGGGACTCGCTGGG	XP_006711449.1:n.315+13_315+28delinsGCTGGGACTCGCTGGG
XM_011509640.3:c.315+13_315+28delinsGCTGGGACTCGCTGGG	XP_011507942.1:n.315+13_315+28delinsGCTGGGACTCGCTGGG
XM_017001493.1:c.507+13_507+28delinsGCTGGGACTCGCTGGG	XP_016856982.1:n.507+13_507+28delinsGCTGGGACTCGCTGGG
NM_181871.4:c.414+13_414+28delinsGCTGGGACTCGCTGGG	NP_870986.1:n.414+13_414+28delinsGCTGGGACTCGCTGGG