Canonical Allele Identifier: CA2841104289

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290619dup , CM000663.2:g.155290619dup	GRCh38
NC_000001.10:g.155260410dup , CM000663.1:g.155260410dup	GRCh37
NC_000001.9:g.153527034dup	NCBI36
NG_011677.1:g.15817dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1679dup MANE Select	ENSP00000339933.4:p.Gly561TrpfsTer?
ENST00000342741.4:c.1679dup	ENSP00000339933.4:p.Gly561TrpfsTer?
ENST00000392414.7:c.1586dup	ENSP00000376214.3:p.Gly530TrpfsTer?
NM_000298.5:c.1679dup	NP_000289.1:p.Gly561TrpfsTer?
NM_181871.3:c.1586dup	NP_870986.1:p.Gly530TrpfsTer?
XM_005245266.3:c.1838dup	XP_005245323.1:p.Gly614TrpfsTer?
XM_006711386.2:c.1487dup	XP_006711449.1:p.Gly497TrpfsTer?
XM_011509640.1:c.1487dup	XP_011507942.1:p.Gly497TrpfsTer?
NM_000298.6:c.1679dup MANE Select	NP_000289.1:p.Gly561TrpfsTer?
XM_006711386.4:c.1487dup	XP_006711449.1:p.Gly497TrpfsTer?
XM_011509640.3:c.1487dup	XP_011507942.1:p.Gly497TrpfsTer?
NM_181871.4:c.1586dup	NP_870986.1:p.Gly530TrpfsTer?