Canonical Allele Identifier: CA2648266702

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290432-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290432_155290433insA , CM000663.2:g.155290432_155290433insA	GRCh38
NC_000001.10:g.155260223_155260224insA , CM000663.1:g.155260223_155260224insA	GRCh37
NC_000001.9:g.153526847_153526848insA	NCBI36
NG_011677.1:g.16002_16003insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*139_*140insT MANE Select	ENSP00000339933.4:n.*139_*140insT
ENST00000342741.4:c.*139_*140insT	ENSP00000339933.4:n.*139_*140insT
ENST00000392414.7:c.*139_*140insT	ENSP00000376214.3:n.*139_*140insT
NM_000298.5:c.*139_*140insT	NP_000289.1:n.*139_*140insT
NM_181871.3:c.*139_*140insT	NP_870986.1:n.*139_*140insT
XM_005245266.3:c.*139_*140insT	XP_005245323.1:n.*139_*140insT
XM_006711386.2:c.*139_*140insT	XP_006711449.1:n.*139_*140insT
XM_011509640.1:c.*139_*140insT	XP_011507942.1:n.*139_*140insT
NM_000298.6:c.*139_*140insT MANE Select	NP_000289.1:n.*139_*140insT
XM_006711386.4:c.*139_*140insT	XP_006711449.1:n.*139_*140insT
XM_011509640.3:c.*139_*140insT	XP_011507942.1:n.*139_*140insT
NM_181871.4:c.*139_*140insT	NP_870986.1:n.*139_*140insT