Canonical Allele Identifier: CA1200112317

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294802_155294803delinsAG , CM000663.2:g.155294802_155294803delinsAG	GRCh38
NC_000001.10:g.155264593_155264594delinsAG , CM000663.1:g.155264593_155264594delinsAG	GRCh37
NC_000001.9:g.153531217_153531218delinsAG	NCBI36
NG_011677.1:g.11632_11633delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.695-51_695-50delinsCT MANE Select	ENSP00000339933.4:n.695-51_695-50delinsCT
ENST00000342741.4:c.695-51_695-50delinsCT	ENSP00000339933.4:n.695-51_695-50delinsCT
ENST00000392414.7:c.602-51_602-50delinsCT	ENSP00000376214.3:n.602-51_602-50delinsCT
NM_000298.5:c.695-51_695-50delinsCT	NP_000289.1:n.695-51_695-50delinsCT
NM_181871.3:c.602-51_602-50delinsCT	NP_870986.1:n.602-51_602-50delinsCT
XM_005245266.3:c.854-51_854-50delinsCT	XP_005245323.1:n.854-51_854-50delinsCT
XM_006711386.2:c.503-51_503-50delinsCT	XP_006711449.1:n.503-51_503-50delinsCT
XM_011509639.1:c.854-51_854-50delinsCT	XP_011507941.1:n.854-51_854-50delinsCT
XM_011509640.1:c.503-51_503-50delinsCT	XP_011507942.1:n.503-51_503-50delinsCT
NM_000298.6:c.695-51_695-50delinsCT MANE Select	NP_000289.1:n.695-51_695-50delinsCT
XM_006711386.4:c.503-51_503-50delinsCT	XP_006711449.1:n.503-51_503-50delinsCT
XM_011509640.3:c.503-51_503-50delinsCT	XP_011507942.1:n.503-51_503-50delinsCT
XM_017001493.1:c.695-51_695-50delinsCT	XP_016856982.1:n.695-51_695-50delinsCT
NM_181871.4:c.602-51_602-50delinsCT	NP_870986.1:n.602-51_602-50delinsCT