Canonical Allele Identifier: CA8391790

Gene: MYH3

Linked Data

• ClinVar Variation Id: 258702
• ClinVar RCV Id: RCV000252154 ; RCV001660227
• dbSNP Id: rs147333978
• ExAC: 17:10532881 TG / T
• gnomAD v2: 17-10532881-TG-T
• gnomAD v3: 17-10629564-TG-T
• gnomAD v4: 17-10629564-TG-T
• MyVariant Identifiers: chr17:g.10532883del (hg19) ; chr17:g.10532882del (hg19) ; chr17:g.10629566del (hg38) ; chr17:g.10629565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10629573del , CM000679.2:g.10629573del	GRCh38
NC_000017.10:g.10532890del , CM000679.1:g.10532890del	GRCh37
NC_000017.9:g.10473615del	NCBI36
NG_011537.1:g.32734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.5796+32del MANE Select	ENSP00000464317.1:n.5796+32del
ENST00000577963.1:n.338+32del
ENST00000579928.2:n.326+32del
ENST00000583535.5:c.5796+32del	ENSP00000464317.1:n.5796+32del
NM_002470.3:c.5796+32del	NP_002461.2:n.5796+32del
XM_011523870.1:c.5796+32del	XP_011522172.1:n.5796+32del
XM_011523871.1:c.5796+32del	XP_011522173.1:n.5796+32del
XM_011523870.3:c.5796+32del	XP_011522172.1:n.5796+32del
XM_011523871.2:c.5796+32del	XP_011522173.1:n.5796+32del
NM_002470.4:c.5796+32del MANE Select	NP_002461.2:n.5796+32del