Canonical Allele Identifier: CA645531866

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290680-TG-T
• COSMIC: COSM4950252

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290685del , CM000663.2:g.155290685del	GRCh38
NC_000001.10:g.155260476del , CM000663.1:g.155260476del	GRCh37
NC_000001.9:g.153527100del	NCBI36
NG_011677.1:g.15754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-3del MANE Select	ENSP00000339933.4:n.1619-3del
ENST00000342741.4:c.1619-3del	ENSP00000339933.4:n.1619-3del
ENST00000392414.7:c.1526-3del	ENSP00000376214.3:n.1526-3del
NM_000298.5:c.1619-3del	NP_000289.1:n.1619-3del
NM_181871.3:c.1526-3del	NP_870986.1:n.1526-3del
XM_005245266.3:c.1778-3del	XP_005245323.1:n.1778-3del
XM_006711386.2:c.1427-3del	XP_006711449.1:n.1427-3del
XM_011509640.1:c.1427-3del	XP_011507942.1:n.1427-3del
NM_000298.6:c.1619-3del MANE Select	NP_000289.1:n.1619-3del
XM_006711386.4:c.1427-3del	XP_006711449.1:n.1427-3del
XM_011509640.3:c.1427-3del	XP_011507942.1:n.1427-3del
NM_181871.4:c.1526-3del	NP_870986.1:n.1526-3del