Canonical Allele Identifier: CA2740095277
Gene: MYH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2985608
ClinVar RCV Id: RCV003841215
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10639695_10639697del , CM000679.2:g.10639695_10639697del GRCh38
NC_000017.10:g.10543012_10543014del , CM000679.1:g.10543012_10543014del GRCh37
NC_000017.9:g.10483737_10483739del NCBI36
NG_011537.1:g.22608_22610del

Transcript Alleles

HGVS Amino-acid Change
ENST00000583535.6:c.2794_2796del MANE Select ENSP00000464317.1:p.Glu932del
ENST00000583535.5:c.2794_2796del ENSP00000464317.1:p.Glu932del
NM_002470.3:c.2794_2796del NP_002461.2:p.Glu932del
XM_011523870.1:c.2794_2796del XP_011522172.1:p.Glu932del
XM_011523871.1:c.2794_2796del XP_011522173.1:p.Glu932del
XM_011523872.1:c.2794_2796del XP_011522174.1:p.Glu932del
XM_011523870.3:c.2794_2796del XP_011522172.1:p.Glu932del
XM_011523871.2:c.2794_2796del XP_011522173.1:p.Glu932del
NM_002470.4:c.2794_2796del MANE Select NP_002461.2:p.Glu932del
Search 100 bp 5'
Search 100 bp 3'