Canonical Allele Identifier: CA725975072

Gene: MYH3

Linked Data

• dbSNP Id: rs1431008342
• gnomAD v3: 17-10639599-CA-C
• gnomAD v4: 17-10639599-CA-C
• MyVariant Identifiers: chr17:g.10542917del (hg19) ; chr17:g.10639600del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10639600del , CM000679.2:g.10639600del	GRCh38
NC_000017.10:g.10542917del , CM000679.1:g.10542917del	GRCh37
NC_000017.9:g.10483642del	NCBI36
NG_011537.1:g.22699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.2885del MANE Select	ENSP00000464317.1:p.Leu962ArgfsTer25
ENST00000583535.5:c.2885del	ENSP00000464317.1:p.Leu962ArgfsTer25
NM_002470.3:c.2885del	NP_002461.2:p.Leu962ArgfsTer25
XM_011523870.1:c.2885del	XP_011522172.1:p.Leu962ArgfsTer25
XM_011523871.1:c.2885del	XP_011522173.1:p.Leu962ArgfsTer25
XM_011523872.1:c.2885del	XP_011522174.1:p.Leu962ArgfsTer25
XM_011523870.3:c.2885del	XP_011522172.1:p.Leu962ArgfsTer25
XM_011523871.2:c.2885del	XP_011522173.1:p.Leu962ArgfsTer25
NM_002470.4:c.2885del MANE Select	NP_002461.2:p.Leu962ArgfsTer25