Canonical Allele Identifier: CA1007987022

Gene: PKLR

Linked Data

• dbSNP Id: rs1647448238
• gnomAD v3: 1-155294641-ACGTCCTGCT-A
• gnomAD v4: 1-155294641-ACGTCCTGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294644_155294652del , CM000663.2:g.155294644_155294652del	GRCh38
NC_000001.10:g.155264435_155264443del , CM000663.1:g.155264435_155264443del	GRCh37
NC_000001.9:g.153531059_153531067del	NCBI36
NG_011677.1:g.11785_11793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.797_805del MANE Select	ENSP00000339933.4:p.Glu266_Asp268del
ENST00000342741.4:c.797_805del	ENSP00000339933.4:p.Glu266_Asp268del
ENST00000392414.7:c.704_712del	ENSP00000376214.3:p.Glu235_Asp237del
NM_000298.5:c.797_805del	NP_000289.1:p.Glu266_Asp268del
NM_181871.3:c.704_712del	NP_870986.1:p.Glu235_Asp237del
XM_005245266.3:c.956_964del	XP_005245323.1:p.Glu319_Asp321del
XM_006711386.2:c.605_613del	XP_006711449.1:p.Glu202_Asp204del
XM_011509639.1:c.956_964del	XP_011507941.1:p.Glu319_Asp321del
XM_011509640.1:c.605_613del	XP_011507942.1:p.Glu202_Asp204del
NM_000298.6:c.797_805del MANE Select	NP_000289.1:p.Glu266_Asp268del
XM_006711386.4:c.605_613del	XP_006711449.1:p.Glu202_Asp204del
XM_011509640.3:c.605_613del	XP_011507942.1:p.Glu202_Asp204del
XM_017001493.1:c.797_805del	XP_016856982.1:p.Glu266_Asp268del
NM_181871.4:c.704_712del	NP_870986.1:p.Glu235_Asp237del