Canonical Allele Identifier: CA2576173375
Gene: MYH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10639693_10639694dup , CM000679.2:g.10639693_10639694dup GRCh38
NC_000017.10:g.10543010_10543011dup , CM000679.1:g.10543010_10543011dup GRCh37
NC_000017.9:g.10483735_10483736dup NCBI36
NG_011537.1:g.22606_22607dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000583535.6:c.2792_2793dup MANE Select ENSP00000464317.1:p.Glu932ArgfsTer7
ENST00000583535.5:c.2792_2793dup ENSP00000464317.1:p.Glu932ArgfsTer7
NM_002470.3:c.2792_2793dup NP_002461.2:p.Glu932ArgfsTer7
XM_011523870.1:c.2792_2793dup XP_011522172.1:p.Glu932ArgfsTer7
XM_011523871.1:c.2792_2793dup XP_011522173.1:p.Glu932ArgfsTer7
XM_011523872.1:c.2792_2793dup XP_011522174.1:p.Glu932ArgfsTer7
XM_011523870.3:c.2792_2793dup XP_011522172.1:p.Glu932ArgfsTer7
XM_011523871.2:c.2792_2793dup XP_011522173.1:p.Glu932ArgfsTer7
NM_002470.4:c.2792_2793dup MANE Select NP_002461.2:p.Glu932ArgfsTer7