Canonical Allele Identifier: CA526668865

Gene: PKLR

Linked Data

• dbSNP Id: rs1165004243
• gnomAD v2: 1-155261508-C-CA
• gnomAD v4: 1-155291717-C-CA
• MyVariant Identifiers: chr1:g.155261508_155261509insA (hg19) ; chr1:g.155291717_155291718insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291720dup , CM000663.2:g.155291720dup	GRCh38
NC_000001.10:g.155261511dup , CM000663.1:g.155261511dup	GRCh37
NC_000001.9:g.153528135dup	NCBI36
NG_011677.1:g.14717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1618+38dup MANE Select	ENSP00000339933.4:n.1618+38dup
ENST00000342741.4:c.1618+38dup	ENSP00000339933.4:n.1618+38dup
ENST00000392414.7:c.1525+38dup	ENSP00000376214.3:n.1525+38dup
NM_000298.5:c.1618+38dup	NP_000289.1:n.1618+38dup
NM_181871.3:c.1525+38dup	NP_870986.1:n.1525+38dup
XM_005245266.3:c.1777+38dup	XP_005245323.1:n.1777+38dup
XM_006711386.2:c.1426+38dup	XP_006711449.1:n.1426+38dup
XM_011509640.1:c.1426+38dup	XP_011507942.1:n.1426+38dup
NM_000298.6:c.1618+38dup MANE Select	NP_000289.1:n.1618+38dup
XM_006711386.4:c.1426+38dup	XP_006711449.1:n.1426+38dup
XM_011509640.3:c.1426+38dup	XP_011507942.1:n.1426+38dup
NM_181871.4:c.1525+38dup	NP_870986.1:n.1525+38dup