Canonical Allele Identifier: CA2648269429

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294647-T-TGCTCGGACAGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294649_155294661dup , CM000663.2:g.155294649_155294661dup	GRCh38
NC_000001.10:g.155264440_155264452dup , CM000663.1:g.155264440_155264452dup	GRCh37
NC_000001.9:g.153531064_153531076dup	NCBI36
NG_011677.1:g.11775_11787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.787_799dup MANE Select	ENSP00000339933.4:p.Gln267ArgfsTer?
ENST00000342741.4:c.787_799dup	ENSP00000339933.4:p.Gln267ArgfsTer?
ENST00000392414.7:c.694_706dup	ENSP00000376214.3:p.Gln236ArgfsTer?
NM_000298.5:c.787_799dup	NP_000289.1:p.Gln267ArgfsTer?
NM_181871.3:c.694_706dup	NP_870986.1:p.Gln236ArgfsTer?
XM_005245266.3:c.946_958dup	XP_005245323.1:p.Gln320ArgfsTer?
XM_006711386.2:c.595_607dup	XP_006711449.1:p.Gln203ArgfsTer?
XM_011509639.1:c.946_958dup	XP_011507941.1:p.Gln320ArgfsTer?
XM_011509640.1:c.595_607dup	XP_011507942.1:p.Gln203ArgfsTer?
NM_000298.6:c.787_799dup MANE Select	NP_000289.1:p.Gln267ArgfsTer?
XM_006711386.4:c.595_607dup	XP_006711449.1:p.Gln203ArgfsTer?
XM_011509640.3:c.595_607dup	XP_011507942.1:p.Gln203ArgfsTer?
XM_017001493.1:c.787_799dup	XP_016856982.1:p.Gln267ArgfsTer?
NM_181871.4:c.694_706dup	NP_870986.1:p.Gln236ArgfsTer?