Canonical Allele Identifier: CA1200112589

Gene: PKLR

Linked Data

• dbSNP Id: rs1647512630
• gnomAD v4: 1-155295376-C-CCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295378_155295380dup , CM000663.2:g.155295378_155295380dup	GRCh38
NC_000001.10:g.155265169_155265171dup , CM000663.1:g.155265169_155265171dup	GRCh37
NC_000001.9:g.153531793_153531795dup	NCBI36
NG_011677.1:g.11056_11058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.507+58_507+60dup MANE Select	ENSP00000339933.4:n.507+58_507+60dup
ENST00000434082.3:c.315+58_315+60dup	ENSP00000398037.3:n.315+58_315+60dup
ENST00000342741.4:c.507+58_507+60dup	ENSP00000339933.4:n.507+58_507+60dup
ENST00000392414.7:c.414+58_414+60dup	ENSP00000376214.3:n.414+58_414+60dup
ENST00000434082.2:c.412+58_412+60dup	ENSP00000398037.2:n.412+58_412+60dup
NM_000298.5:c.507+58_507+60dup	NP_000289.1:n.507+58_507+60dup
NM_181871.3:c.414+58_414+60dup	NP_870986.1:n.414+58_414+60dup
XM_005245266.3:c.666+58_666+60dup	XP_005245323.1:n.666+58_666+60dup
XM_006711386.2:c.315+58_315+60dup	XP_006711449.1:n.315+58_315+60dup
XM_011509639.1:c.666+58_666+60dup	XP_011507941.1:n.666+58_666+60dup
XM_011509640.1:c.315+58_315+60dup	XP_011507942.1:n.315+58_315+60dup
NM_000298.6:c.507+58_507+60dup MANE Select	NP_000289.1:n.507+58_507+60dup
XM_006711386.4:c.315+58_315+60dup	XP_006711449.1:n.315+58_315+60dup
XM_011509640.3:c.315+58_315+60dup	XP_011507942.1:n.315+58_315+60dup
XM_017001493.1:c.507+58_507+60dup	XP_016856982.1:n.507+58_507+60dup
NM_181871.4:c.414+58_414+60dup	NP_870986.1:n.414+58_414+60dup