Canonical Allele Identifier: CA1200112141

Gene: PKLR

Linked Data

• dbSNP Id: rs1647424004

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294422_155294423insC , CM000663.2:g.155294422_155294423insC	GRCh38
NC_000001.10:g.155264213_155264214insC , CM000663.1:g.155264213_155264214insC	GRCh37
NC_000001.9:g.153530837_153530838insC	NCBI36
NG_011677.1:g.12012_12013insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.966-38_966-37insG MANE Select	ENSP00000339933.4:n.966-38_966-37insG
ENST00000342741.4:c.966-38_966-37insG	ENSP00000339933.4:n.966-38_966-37insG
ENST00000392414.7:c.873-38_873-37insG	ENSP00000376214.3:n.873-38_873-37insG
NM_000298.5:c.966-38_966-37insG	NP_000289.1:n.966-38_966-37insG
NM_181871.3:c.873-38_873-37insG	NP_870986.1:n.873-38_873-37insG
XM_005245266.3:c.1125-38_1125-37insG	XP_005245323.1:n.1125-38_1125-37insG
XM_006711386.2:c.774-38_774-37insG	XP_006711449.1:n.774-38_774-37insG
XM_011509639.1:c.1125-38_1125-37insG	XP_011507941.1:n.1125-38_1125-37insG
XM_011509640.1:c.774-38_774-37insG	XP_011507942.1:n.774-38_774-37insG
NM_000298.6:c.966-38_966-37insG MANE Select	NP_000289.1:n.966-38_966-37insG
XM_006711386.4:c.774-38_774-37insG	XP_006711449.1:n.774-38_774-37insG
XM_011509640.3:c.774-38_774-37insG	XP_011507942.1:n.774-38_774-37insG
XM_017001493.1:c.966-38_966-37insG	XP_016856982.1:n.966-38_966-37insG
NM_181871.4:c.873-38_873-37insG	NP_870986.1:n.873-38_873-37insG