Canonical Allele Identifier: CA526668871

Gene: PKLR

Linked Data

• dbSNP Id: rs1166870100
• gnomAD v2: 1-155264522-T-TGG
• gnomAD v4: 1-155294731-T-TGG
• MyVariant Identifiers: chr1:g.155264522_155264523insGG (hg19) ; chr1:g.155294731_155294732insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294733_155294734dup , CM000663.2:g.155294733_155294734dup	GRCh38
NC_000001.10:g.155264524_155264525dup , CM000663.1:g.155264524_155264525dup	GRCh37
NC_000001.9:g.153531148_153531149dup	NCBI36
NG_011677.1:g.11702_11703dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.714_715dup MANE Select	ENSP00000339933.4:p.Gln239ProfsTer15
ENST00000342741.4:c.714_715dup	ENSP00000339933.4:p.Gln239ProfsTer15
ENST00000392414.7:c.621_622dup	ENSP00000376214.3:p.Gln208ProfsTer15
NM_000298.5:c.714_715dup	NP_000289.1:p.Gln239ProfsTer15
NM_181871.3:c.621_622dup	NP_870986.1:p.Gln208ProfsTer15
XM_005245266.3:c.873_874dup	XP_005245323.1:p.Gln292ProfsTer15
XM_006711386.2:c.522_523dup	XP_006711449.1:p.Gln175ProfsTer15
XM_011509639.1:c.873_874dup	XP_011507941.1:p.Gln292ProfsTer15
XM_011509640.1:c.522_523dup	XP_011507942.1:p.Gln175ProfsTer15
NM_000298.6:c.714_715dup MANE Select	NP_000289.1:p.Gln239ProfsTer15
XM_006711386.4:c.522_523dup	XP_006711449.1:p.Gln175ProfsTer15
XM_011509640.3:c.522_523dup	XP_011507942.1:p.Gln175ProfsTer15
XM_017001493.1:c.714_715dup	XP_016856982.1:p.Gln239ProfsTer15
NM_181871.4:c.621_622dup	NP_870986.1:p.Gln208ProfsTer15