Canonical Allele Identifier: CA2586967534

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294491-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294493_155294495del , CM000663.2:g.155294493_155294495del	GRCh38
NC_000001.10:g.155264284_155264286del , CM000663.1:g.155264284_155264286del	GRCh37
NC_000001.9:g.153530908_153530910del	NCBI36
NG_011677.1:g.11941_11943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.953_955del MANE Select	ENSP00000339933.4:p.Glu318del
ENST00000342741.4:c.953_955del	ENSP00000339933.4:p.Glu318del
ENST00000392414.7:c.860_862del	ENSP00000376214.3:p.Glu287del
NM_000298.5:c.953_955del	NP_000289.1:p.Glu318del
NM_181871.3:c.860_862del	NP_870986.1:p.Glu287del
XM_005245266.3:c.1112_1114del	XP_005245323.1:p.Glu371del
XM_006711386.2:c.761_763del	XP_006711449.1:p.Glu254del
XM_011509639.1:c.1112_1114del	XP_011507941.1:p.Glu371del
XM_011509640.1:c.761_763del	XP_011507942.1:p.Glu254del
NM_000298.6:c.953_955del MANE Select	NP_000289.1:p.Glu318del
XM_006711386.4:c.761_763del	XP_006711449.1:p.Glu254del
XM_011509640.3:c.761_763del	XP_011507942.1:p.Glu254del
XM_017001493.1:c.953_955del	XP_016856982.1:p.Glu318del
NM_181871.4:c.860_862del	NP_870986.1:p.Glu287del