Canonical Allele Identifier: CA2527308621

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290608_155290609insAT , CM000663.2:g.155290608_155290609insAT	GRCh38
NC_000001.10:g.155260399_155260400insAT , CM000663.1:g.155260399_155260400insAT	GRCh37
NC_000001.9:g.153527023_153527024insAT	NCBI36
NG_011677.1:g.15826_15827insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1688_1689insAT MANE Select	ENSP00000339933.4:p.Tyr564SerfsTer9
ENST00000342741.4:c.1688_1689insAT	ENSP00000339933.4:p.Tyr564SerfsTer9
ENST00000392414.7:c.1595_1596insAT	ENSP00000376214.3:p.Tyr533SerfsTer9
NM_000298.5:c.1688_1689insAT	NP_000289.1:p.Tyr564SerfsTer9
NM_181871.3:c.1595_1596insAT	NP_870986.1:p.Tyr533SerfsTer9
XM_005245266.3:c.1847_1848insAT	XP_005245323.1:p.Tyr617SerfsTer9
XM_006711386.2:c.1496_1497insAT	XP_006711449.1:p.Tyr500SerfsTer9
XM_011509640.1:c.1496_1497insAT	XP_011507942.1:p.Tyr500SerfsTer9
NM_000298.6:c.1688_1689insAT MANE Select	NP_000289.1:p.Tyr564SerfsTer9
XM_006711386.4:c.1496_1497insAT	XP_006711449.1:p.Tyr500SerfsTer9
XM_011509640.3:c.1496_1497insAT	XP_011507942.1:p.Tyr500SerfsTer9
NM_181871.4:c.1595_1596insAT	NP_870986.1:p.Tyr533SerfsTer9