Canonical Allele Identifier: CA2648266852

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290509-CGTAGACTGGGGAGGAAGGGATGGGGTACAAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290514_155290545del , CM000663.2:g.155290514_155290545del	GRCh38
NC_000001.10:g.155260305_155260336del , CM000663.1:g.155260305_155260336del	GRCh37
NC_000001.9:g.153526929_153526960del	NCBI36
NG_011677.1:g.15894_15925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*31_*62del MANE Select	ENSP00000339933.4:n.*31_*62del
ENST00000342741.4:c.*31_*62del	ENSP00000339933.4:n.*31_*62del
ENST00000392414.7:c.*31_*62del	ENSP00000376214.3:n.*31_*62del
NM_000298.5:c.*31_*62del	NP_000289.1:n.*31_*62del
NM_181871.3:c.*31_*62del	NP_870986.1:n.*31_*62del
XM_005245266.3:c.*31_*62del	XP_005245323.1:n.*31_*62del
XM_006711386.2:c.*31_*62del	XP_006711449.1:n.*31_*62del
XM_011509640.1:c.*31_*62del	XP_011507942.1:n.*31_*62del
NM_000298.6:c.*31_*62del MANE Select	NP_000289.1:n.*31_*62del
XM_006711386.4:c.*31_*62del	XP_006711449.1:n.*31_*62del
XM_011509640.3:c.*31_*62del	XP_011507942.1:n.*31_*62del
NM_181871.4:c.*31_*62del	NP_870986.1:n.*31_*62del