Canonical Allele Identifier: CA2586967521

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291886del , CM000663.2:g.155291886del	GRCh38
NC_000001.10:g.155261677del , CM000663.1:g.155261677del	GRCh37
NC_000001.9:g.153528301del	NCBI36
NG_011677.1:g.14549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1488del MANE Select	ENSP00000339933.4:p.Thr497ProfsTer?
ENST00000342741.4:c.1488del	ENSP00000339933.4:p.Thr497ProfsTer?
ENST00000392414.7:c.1395del	ENSP00000376214.3:p.Thr466ProfsTer?
NM_000298.5:c.1488del	NP_000289.1:p.Thr497ProfsTer?
NM_181871.3:c.1395del	NP_870986.1:p.Thr466ProfsTer?
XM_005245266.3:c.1647del	XP_005245323.1:p.Thr550ProfsTer?
XM_006711386.2:c.1296del	XP_006711449.1:p.Thr433ProfsTer?
XM_011509640.1:c.1296del	XP_011507942.1:p.Thr433ProfsTer?
NM_000298.6:c.1488del MANE Select	NP_000289.1:p.Thr497ProfsTer?
XM_006711386.4:c.1296del	XP_006711449.1:p.Thr433ProfsTer?
XM_011509640.3:c.1296del	XP_011507942.1:p.Thr433ProfsTer?
NM_181871.4:c.1395del	NP_870986.1:p.Thr466ProfsTer?