Canonical Allele Identifier: CA2499214195

Gene: PKLR

Linked Data

• ClinVar Variation Id: 1162852
• ClinVar RCV Id: RCV001507458
• dbSNP Id: rs2148195441

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290558_155290559delinsTG , CM000663.2:g.155290558_155290559delinsTG	GRCh38
NC_000001.10:g.155260349_155260350delinsTG , CM000663.1:g.155260349_155260350delinsTG	GRCh37
NC_000001.9:g.153526973_153526974delinsTG	NCBI36
NG_011677.1:g.15876_15877delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*13_*14delinsCA MANE Select	ENSP00000339933.4:n.*13_*14delinsCA
ENST00000342741.4:c.*13_*14delinsCA	ENSP00000339933.4:n.*13_*14delinsCA
ENST00000392414.7:c.*13_*14delinsCA	ENSP00000376214.3:n.*13_*14delinsCA
NM_000298.5:c.*13_*14delinsCA	NP_000289.1:n.*13_*14delinsCA
NM_181871.3:c.*13_*14delinsCA	NP_870986.1:n.*13_*14delinsCA
XM_005245266.3:c.*13_*14delinsCA	XP_005245323.1:n.*13_*14delinsCA
XM_006711386.2:c.*13_*14delinsCA	XP_006711449.1:n.*13_*14delinsCA
XM_011509640.1:c.*13_*14delinsCA	XP_011507942.1:n.*13_*14delinsCA
NM_000298.6:c.*13_*14delinsCA MANE Select	NP_000289.1:n.*13_*14delinsCA
XM_006711386.4:c.*13_*14delinsCA	XP_006711449.1:n.*13_*14delinsCA
XM_011509640.3:c.*13_*14delinsCA	XP_011507942.1:n.*13_*14delinsCA
NM_181871.4:c.*13_*14delinsCA	NP_870986.1:n.*13_*14delinsCA