Canonical Allele Identifier: CA2648264495

Gene: PKLR

Linked Data

• gnomAD v4: 1-155295385-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295386_155295387del , CM000663.2:g.155295386_155295387del	GRCh38
NC_000001.10:g.155265177_155265178del , CM000663.1:g.155265177_155265178del	GRCh37
NC_000001.9:g.153531801_153531802del	NCBI36
NG_011677.1:g.11048_11049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.507+50_507+51del MANE Select	ENSP00000339933.4:n.507+50_507+51del
ENST00000434082.3:c.315+50_315+51del	ENSP00000398037.3:n.315+50_315+51del
ENST00000342741.4:c.507+50_507+51del	ENSP00000339933.4:n.507+50_507+51del
ENST00000392414.7:c.414+50_414+51del	ENSP00000376214.3:n.414+50_414+51del
ENST00000434082.2:c.412+50_412+51del	ENSP00000398037.2:n.412+50_412+51del
NM_000298.5:c.507+50_507+51del	NP_000289.1:n.507+50_507+51del
NM_181871.3:c.414+50_414+51del	NP_870986.1:n.414+50_414+51del
XM_005245266.3:c.666+50_666+51del	XP_005245323.1:n.666+50_666+51del
XM_006711386.2:c.315+50_315+51del	XP_006711449.1:n.315+50_315+51del
XM_011509639.1:c.666+50_666+51del	XP_011507941.1:n.666+50_666+51del
XM_011509640.1:c.315+50_315+51del	XP_011507942.1:n.315+50_315+51del
NM_000298.6:c.507+50_507+51del MANE Select	NP_000289.1:n.507+50_507+51del
XM_006711386.4:c.315+50_315+51del	XP_006711449.1:n.315+50_315+51del
XM_011509640.3:c.315+50_315+51del	XP_011507942.1:n.315+50_315+51del
XM_017001493.1:c.507+50_507+51del	XP_016856982.1:n.507+50_507+51del
NM_181871.4:c.414+50_414+51del	NP_870986.1:n.414+50_414+51del