Canonical Allele Identifier: CA2648267826

Gene: PKLR

Linked Data

• gnomAD v4: 1-155291866-GCAGCCTGGGCAGAGCGGGTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291871_155291891del , CM000663.2:g.155291871_155291891del	GRCh38
NC_000001.10:g.155261662_155261682del , CM000663.1:g.155261662_155261682del	GRCh37
NC_000001.9:g.153528286_153528306del	NCBI36
NG_011677.1:g.14548_14568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1487_1507del MANE Select	ENSP00000339933.4:p.Val496_Ala502del
ENST00000342741.4:c.1487_1507del	ENSP00000339933.4:p.Val496_Ala502del
ENST00000392414.7:c.1394_1414del	ENSP00000376214.3:p.Val465_Ala471del
NM_000298.5:c.1487_1507del	NP_000289.1:p.Val496_Ala502del
NM_181871.3:c.1394_1414del	NP_870986.1:p.Val465_Ala471del
XM_005245266.3:c.1646_1666del	XP_005245323.1:p.Val549_Ala555del
XM_006711386.2:c.1295_1315del	XP_006711449.1:p.Val432_Ala438del
XM_011509640.1:c.1295_1315del	XP_011507942.1:p.Val432_Ala438del
NM_000298.6:c.1487_1507del MANE Select	NP_000289.1:p.Val496_Ala502del
XM_006711386.4:c.1295_1315del	XP_006711449.1:p.Val432_Ala438del
XM_011509640.3:c.1295_1315del	XP_011507942.1:p.Val432_Ala438del
NM_181871.4:c.1394_1414del	NP_870986.1:p.Val465_Ala471del