Canonical Allele Identifier: CA8392878

Gene: MYH3

Linked Data

• ClinVar Variation Id: 321751
• ClinVar RCV Id: RCV000280921 ; RCV000350907 ; RCV001699451 ; RCV001572903
• dbSNP Id: rs3216884
• ExAC: 17:10544696 G / GA
• gnomAD v2: 17-10544696-G-GA
• gnomAD v3: 17-10641379-G-GA
• gnomAD v4: 17-10641379-G-GA
• MyVariant Identifiers: chr17:g.10544697dupA (hg19) ; chr17:g.10544698_10544699insA (hg19) ; chr17:g.10544697_10544698insA (hg19) ; chr17:g.10544696_10544697insA (hg19) ; chr17:g.10641380dupA (hg38) ; chr17:g.10641380_10641381insA (hg38) ; chr17:g.10641379_10641380insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10641389dup , CM000679.2:g.10641389dup	GRCh38
NC_000017.10:g.10544706dup , CM000679.1:g.10544706dup	GRCh37
NC_000017.9:g.10485431dup	NCBI36
NG_011537.1:g.20919dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.1960-8dup MANE Select	ENSP00000464317.1:n.1960-8dup
ENST00000583535.5:c.1960-8dup	ENSP00000464317.1:n.1960-8dup
NM_002470.3:c.1960-8dup	NP_002461.2:n.1960-8dup
XM_011523870.1:c.1960-8dup	XP_011522172.1:n.1960-8dup
XM_011523871.1:c.1960-8dup	XP_011522173.1:n.1960-8dup
XM_011523872.1:c.1960-8dup	XP_011522174.1:n.1960-8dup
XM_011523870.3:c.1960-8dup	XP_011522172.1:n.1960-8dup
XM_011523871.2:c.1960-8dup	XP_011522173.1:n.1960-8dup
NM_002470.4:c.1960-8dup MANE Select	NP_002461.2:n.1960-8dup