Canonical Allele Identifier: CA2481224666

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290193_155290202delinsTCCCCTCTCC , CM000663.2:g.155290193_155290202delinsTCCCCTCTCC	GRCh38
NC_000001.10:g.155259984_155259993delinsTCCCCTCTCC , CM000663.1:g.155259984_155259993delinsTCCCCTCTCC	GRCh37
NC_000001.9:g.153526608_153526617delinsTCCCCTCTCC	NCBI36
NG_011677.1:g.16233_16242delinsGGAGAGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*370_*379delinsGGAGAGGGGA MANE Select	ENSP00000339933.4:n.*370_*379delinsGGAGAGGGGA
ENST00000392414.7:c.*370_*379delinsGGAGAGGGGA	ENSP00000376214.3:n.*370_*379delinsGGAGAGGGGA
NM_000298.5:c.*370_*379delinsGGAGAGGGGA	NP_000289.1:n.*370_*379delinsGGAGAGGGGA
NM_181871.3:c.*370_*379delinsGGAGAGGGGA	NP_870986.1:n.*370_*379delinsGGAGAGGGGA
NM_000298.6:c.*370_*379delinsGGAGAGGGGA MANE Select	NP_000289.1:n.*370_*379delinsGGAGAGGGGA
NM_181871.4:c.*370_*379delinsGGAGAGGGGA	NP_870986.1:n.*370_*379delinsGGAGAGGGGA