Canonical Allele Identifier: CA1200112611

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295418_155295419delinsTC , CM000663.2:g.155295418_155295419delinsTC	GRCh38
NC_000001.10:g.155265209_155265210delinsTC , CM000663.1:g.155265209_155265210delinsTC	GRCh37
NC_000001.9:g.153531833_153531834delinsTC	NCBI36
NG_011677.1:g.11016_11017delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.507+18_507+19delinsGA MANE Select	ENSP00000339933.4:n.507+18_507+19delinsGA
ENST00000434082.3:c.315+18_315+19delinsGA	ENSP00000398037.3:n.315+18_315+19delinsGA
ENST00000342741.4:c.507+18_507+19delinsGA	ENSP00000339933.4:n.507+18_507+19delinsGA
ENST00000392414.7:c.414+18_414+19delinsGA	ENSP00000376214.3:n.414+18_414+19delinsGA
ENST00000434082.2:c.412+18_412+19delinsGA	ENSP00000398037.2:n.412+18_412+19delinsGA
NM_000298.5:c.507+18_507+19delinsGA	NP_000289.1:n.507+18_507+19delinsGA
NM_181871.3:c.414+18_414+19delinsGA	NP_870986.1:n.414+18_414+19delinsGA
XM_005245266.3:c.666+18_666+19delinsGA	XP_005245323.1:n.666+18_666+19delinsGA
XM_006711386.2:c.315+18_315+19delinsGA	XP_006711449.1:n.315+18_315+19delinsGA
XM_011509639.1:c.666+18_666+19delinsGA	XP_011507941.1:n.666+18_666+19delinsGA
XM_011509640.1:c.315+18_315+19delinsGA	XP_011507942.1:n.315+18_315+19delinsGA
NM_000298.6:c.507+18_507+19delinsGA MANE Select	NP_000289.1:n.507+18_507+19delinsGA
XM_006711386.4:c.315+18_315+19delinsGA	XP_006711449.1:n.315+18_315+19delinsGA
XM_011509640.3:c.315+18_315+19delinsGA	XP_011507942.1:n.315+18_315+19delinsGA
XM_017001493.1:c.507+18_507+19delinsGA	XP_016856982.1:n.507+18_507+19delinsGA
NM_181871.4:c.414+18_414+19delinsGA	NP_870986.1:n.414+18_414+19delinsGA