Canonical Allele Identifier: CA2648266941

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290588-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290591del , CM000663.2:g.155290591del	GRCh38
NC_000001.10:g.155260382del , CM000663.1:g.155260382del	GRCh37
NC_000001.9:g.153527006del	NCBI36
NG_011677.1:g.15846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1708del MANE Select	ENSP00000339933.4:p.Val570CysfsTer2
ENST00000342741.4:c.1708del	ENSP00000339933.4:p.Val570CysfsTer2
ENST00000392414.7:c.1615del	ENSP00000376214.3:p.Val539CysfsTer2
NM_000298.5:c.1708del	NP_000289.1:p.Val570CysfsTer2
NM_181871.3:c.1615del	NP_870986.1:p.Val539CysfsTer2
XM_005245266.3:c.1867del	XP_005245323.1:p.Val623CysfsTer2
XM_006711386.2:c.1516del	XP_006711449.1:p.Val506CysfsTer2
XM_011509640.1:c.1516del	XP_011507942.1:p.Val506CysfsTer2
NM_000298.6:c.1708del MANE Select	NP_000289.1:p.Val570CysfsTer2
XM_006711386.4:c.1516del	XP_006711449.1:p.Val506CysfsTer2
XM_011509640.3:c.1516del	XP_011507942.1:p.Val506CysfsTer2
NM_181871.4:c.1615del	NP_870986.1:p.Val539CysfsTer2