Canonical Allele Identifier: CA2586967538

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294645_155294646insT , CM000663.2:g.155294645_155294646insT	GRCh38
NC_000001.10:g.155264436_155264437insT , CM000663.1:g.155264436_155264437insT	GRCh37
NC_000001.9:g.153531060_153531061insT	NCBI36
NG_011677.1:g.11789_11790insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.801_802insA MANE Select	ENSP00000339933.4:p.Asp268ArgfsTer?
ENST00000342741.4:c.801_802insA	ENSP00000339933.4:p.Asp268ArgfsTer?
ENST00000392414.7:c.708_709insA	ENSP00000376214.3:p.Asp237ArgfsTer?
NM_000298.5:c.801_802insA	NP_000289.1:p.Asp268ArgfsTer?
NM_181871.3:c.708_709insA	NP_870986.1:p.Asp237ArgfsTer?
XM_005245266.3:c.960_961insA	XP_005245323.1:p.Asp321ArgfsTer?
XM_006711386.2:c.609_610insA	XP_006711449.1:p.Asp204ArgfsTer?
XM_011509639.1:c.960_961insA	XP_011507941.1:p.Asp321ArgfsTer?
XM_011509640.1:c.609_610insA	XP_011507942.1:p.Asp204ArgfsTer?
NM_000298.6:c.801_802insA MANE Select	NP_000289.1:p.Asp268ArgfsTer?
XM_006711386.4:c.609_610insA	XP_006711449.1:p.Asp204ArgfsTer?
XM_011509640.3:c.609_610insA	XP_011507942.1:p.Asp204ArgfsTer?
XM_017001493.1:c.801_802insA	XP_016856982.1:p.Asp268ArgfsTer?
NM_181871.4:c.708_709insA	NP_870986.1:p.Asp237ArgfsTer?