Canonical Allele Identifier: CA2481224813

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290613_155290621delinsAGCCAGGTC , CM000663.2:g.155290613_155290621delinsAGCCAGGTC	GRCh38
NC_000001.10:g.155260404_155260412delinsAGCCAGGTC , CM000663.1:g.155260404_155260412delinsAGCCAGGTC	GRCh37
NC_000001.9:g.153527028_153527036delinsAGCCAGGTC	NCBI36
NG_011677.1:g.15814_15822delinsGACCTGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1676_1684delinsGACCTGGCT MANE Select	ENSP00000339933.4:p.Arg559=
ENST00000342741.4:c.1676_1684delinsGACCTGGCT	ENSP00000339933.4:p.Arg559=
ENST00000392414.7:c.1583_1591delinsGACCTGGCT	ENSP00000376214.3:p.Arg528=
NM_000298.5:c.1676_1684delinsGACCTGGCT	NP_000289.1:p.Arg559=
NM_181871.3:c.1583_1591delinsGACCTGGCT	NP_870986.1:p.Arg528=
XM_005245266.3:c.1835_1843delinsGACCTGGCT	XP_005245323.1:p.Arg612=
XM_006711386.2:c.1484_1492delinsGACCTGGCT	XP_006711449.1:p.Arg495=
XM_011509640.1:c.1484_1492delinsGACCTGGCT	XP_011507942.1:p.Arg495=
NM_000298.6:c.1676_1684delinsGACCTGGCT MANE Select	NP_000289.1:p.Arg559=
XM_006711386.4:c.1484_1492delinsGACCTGGCT	XP_006711449.1:p.Arg495=
XM_011509640.3:c.1484_1492delinsGACCTGGCT	XP_011507942.1:p.Arg495=
NM_181871.4:c.1583_1591delinsGACCTGGCT	NP_870986.1:p.Arg528=