Canonical Allele Identifier: CA2510661402

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290615_155290618del , CM000663.2:g.155290615_155290618del	GRCh38
NC_000001.10:g.155260406_155260409del , CM000663.1:g.155260406_155260409del	GRCh37
NC_000001.9:g.153527030_153527033del	NCBI36
NG_011677.1:g.15819_15822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1681_1684del MANE Select	ENSP00000339933.4:p.Gly561ProfsTer10
ENST00000342741.4:c.1681_1684del	ENSP00000339933.4:p.Gly561ProfsTer10
ENST00000392414.7:c.1588_1591del	ENSP00000376214.3:p.Gly530ProfsTer10
NM_000298.5:c.1681_1684del	NP_000289.1:p.Gly561ProfsTer10
NM_181871.3:c.1588_1591del	NP_870986.1:p.Gly530ProfsTer10
XM_005245266.3:c.1840_1843del	XP_005245323.1:p.Gly614ProfsTer10
XM_006711386.2:c.1489_1492del	XP_006711449.1:p.Gly497ProfsTer10
XM_011509640.1:c.1489_1492del	XP_011507942.1:p.Gly497ProfsTer10
NM_000298.6:c.1681_1684del MANE Select	NP_000289.1:p.Gly561ProfsTer10
XM_006711386.4:c.1489_1492del	XP_006711449.1:p.Gly497ProfsTer10
XM_011509640.3:c.1489_1492del	XP_011507942.1:p.Gly497ProfsTer10
NM_181871.4:c.1588_1591del	NP_870986.1:p.Gly530ProfsTer10