Canonical Allele Identifier: CA043116
Gene: MYL3 HGNC NCBI

Linked Data

dbSNP Id: rs768447523

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46860774_46860776del , CM000665.2:g.46860774_46860776del GRCh38
NC_000003.11:g.46902264_46902266del , CM000665.1:g.46902264_46902266del GRCh37
NC_000003.10:g.46877268_46877270del NCBI36
NG_007555.2:g.26396_26398del , LRG_395:g.26396_26398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.209_211del ENSP00000393455.2:p.Lys70del
ENST00000292327.6:c.209_211del MANE Select ENSP00000292327.4:p.Lys70del
ENST00000653454.1:c.209_211del ENSP00000499624.1:p.Lys70del
ENST00000654597.1:c.209_211del ENSP00000499406.1:p.Lys70del
ENST00000655244.1:n.431_433del
ENST00000662933.1:c.209_211del ENSP00000499577.1:p.Lys70del
ENST00000664891.1:n.167_169del
ENST00000292327.4:c.209_211del ENSP00000292327.4:p.Lys70del
ENST00000395869.5:c.209_211del ENSP00000379210.1:p.Lys70del
NM_000258.2:c.209_211del , LRG_395t1:c.209_211del NP_000249.1:p.Lys70del
NM_000258.3:c.209_211del MANE Select NP_000249.1:p.Lys70del