Canonical Allele Identifier: CA2481224667

Gene: PKLR

Linked Data

• dbSNP Id: rs1674470017

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290197_155290205del , CM000663.2:g.155290197_155290205del	GRCh38
NC_000001.10:g.155259988_155259996del , CM000663.1:g.155259988_155259996del	GRCh37
NC_000001.9:g.153526612_153526620del	NCBI36
NG_011677.1:g.16233_16241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*370_*378del MANE Select	ENSP00000339933.4:n.*370_*378del
ENST00000392414.7:c.*370_*378del	ENSP00000376214.3:n.*370_*378del
NM_000298.5:c.*370_*378del	NP_000289.1:n.*370_*378del
NM_181871.3:c.*370_*378del	NP_870986.1:n.*370_*378del
NM_000298.6:c.*370_*378del MANE Select	NP_000289.1:n.*370_*378del
NM_181871.4:c.*370_*378del	NP_870986.1:n.*370_*378del