Canonical Allele Identifier: CA913188105
Gene: MYL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46859579_46859583del , CM000665.2:g.46859579_46859583del GRCh38
NC_000003.11:g.46901069_46901073del , CM000665.1:g.46901069_46901073del GRCh37
NC_000003.10:g.46876073_46876077del NCBI36
NG_007555.2:g.27587_27591del , LRG_395:g.27587_27591del

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.373_377del ENSP00000393455.2:p.Lys125HisfsTer5
ENST00000292327.6:c.373_377del MANE Select ENSP00000292327.4:p.Lys125HisfsTer5
ENST00000653454.1:c.373_377del ENSP00000499624.1:p.Lys125HisfsTer5
ENST00000654597.1:c.373_377del ENSP00000499406.1:p.Lys125HisfsTer5
ENST00000655244.1:n.595_599del
ENST00000662933.1:c.373_377del ENSP00000499577.1:p.Lys125HisfsTer5
ENST00000664891.1:n.331_335del
ENST00000292327.4:c.373_377del ENSP00000292327.4:p.Lys125HisfsTer5
ENST00000395869.5:c.373_377del ENSP00000379210.1:p.Lys125HisfsTer5
NM_000258.2:c.373_377del , LRG_395t1:c.373_377del NP_000249.1:p.Lys125HisfsTer5
NM_000258.3:c.373_377del MANE Select NP_000249.1:p.Lys125HisfsTer5