Canonical Allele Identifier: CA2648269458

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294727-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294728del , CM000663.2:g.155294728del	GRCh38
NC_000001.10:g.155264519del , CM000663.1:g.155264519del	GRCh37
NC_000001.9:g.153531143del	NCBI36
NG_011677.1:g.11707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.719del MANE Select	ENSP00000339933.4:p.Val240GlyfsTer13
ENST00000342741.4:c.719del	ENSP00000339933.4:p.Val240GlyfsTer13
ENST00000392414.7:c.626del	ENSP00000376214.3:p.Val209GlyfsTer13
NM_000298.5:c.719del	NP_000289.1:p.Val240GlyfsTer13
NM_181871.3:c.626del	NP_870986.1:p.Val209GlyfsTer13
XM_005245266.3:c.878del	XP_005245323.1:p.Val293GlyfsTer13
XM_006711386.2:c.527del	XP_006711449.1:p.Val176GlyfsTer13
XM_011509639.1:c.878del	XP_011507941.1:p.Val293GlyfsTer13
XM_011509640.1:c.527del	XP_011507942.1:p.Val176GlyfsTer13
NM_000298.6:c.719del MANE Select	NP_000289.1:p.Val240GlyfsTer13
XM_006711386.4:c.527del	XP_006711449.1:p.Val176GlyfsTer13
XM_011509640.3:c.527del	XP_011507942.1:p.Val176GlyfsTer13
XM_017001493.1:c.719del	XP_016856982.1:p.Val240GlyfsTer13
NM_181871.4:c.626del	NP_870986.1:p.Val209GlyfsTer13