Canonical Allele Identifier: CA2573915949

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290668_155290669del , CM000663.2:g.155290668_155290669del	GRCh38
NC_000001.10:g.155260459_155260460del , CM000663.1:g.155260459_155260460del	GRCh37
NC_000001.9:g.153527083_153527084del	NCBI36
NG_011677.1:g.15767_15768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1629_1630del MANE Select	ENSP00000339933.4:p.Gly544LeufsTer?
ENST00000342741.4:c.1629_1630del	ENSP00000339933.4:p.Gly544LeufsTer?
ENST00000392414.7:c.1536_1537del	ENSP00000376214.3:p.Gly513LeufsTer?
NM_000298.5:c.1629_1630del	NP_000289.1:p.Gly544LeufsTer?
NM_181871.3:c.1536_1537del	NP_870986.1:p.Gly513LeufsTer?
XM_005245266.3:c.1788_1789del	XP_005245323.1:p.Gly597LeufsTer?
XM_006711386.2:c.1437_1438del	XP_006711449.1:p.Gly480LeufsTer?
XM_011509640.1:c.1437_1438del	XP_011507942.1:p.Gly480LeufsTer?
NM_000298.6:c.1629_1630del MANE Select	NP_000289.1:p.Gly544LeufsTer?
XM_006711386.4:c.1437_1438del	XP_006711449.1:p.Gly480LeufsTer?
XM_011509640.3:c.1437_1438del	XP_011507942.1:p.Gly480LeufsTer?
NM_181871.4:c.1536_1537del	NP_870986.1:p.Gly513LeufsTer?