Canonical Allele Identifier: CA10635216

Gene: MYO3A

Linked Data

• ClinVar Variation Id: 299686
• ClinVar RCV Id: RCV000323527
• dbSNP Id: rs558895234
• gnomAD v2: 10-26501280-A-AT
• gnomAD v3: 10-26212351-A-AT
• gnomAD v4: 10-26212351-A-AT
• COSMIC: COSN20106975
• MyVariant Identifiers: chr10:g.26501291dupT (hg19) ; chr10:g.26501282_26501283insT (hg19) ; chr10:g.26501280_26501281insT (hg19) ; chr10:g.26212362dupT (hg38) ; chr10:g.26212353_26212354insT (hg38) ; chr10:g.26212351_26212352insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26212362dup , CM000672.2:g.26212362dup	GRCh38
NC_000010.10:g.26501291dup , CM000672.1:g.26501291dup	GRCh37
NC_000010.9:g.26541297dup	NCBI36
NG_011635.1:g.283290dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642920.2:c.*399dup MANE Select	ENSP00000495965.1:n.*399dup
ENST00000645292.1:n.710dup
ENST00000265944.9:c.*399dup	ENSP00000265944.4:n.*399dup
NM_017433.4:c.*399dup	NP_059129.3:n.*399dup
XM_011519498.1:c.*399dup	XP_011517800.1:n.*399dup
XM_011519499.1:c.*399dup	XP_011517801.1:n.*399dup
XM_011519500.1:c.*399dup	XP_011517802.1:n.*399dup
XM_011519501.1:c.*399dup	XP_011517803.1:n.*399dup
XM_011519504.1:c.*301dup	XP_011517806.1:n.*301dup
XM_011519505.1:c.*399dup	XP_011517807.1:n.*399dup
XM_011519507.1:c.*399dup	XP_011517809.1:n.*399dup
XM_011519512.1:c.*399dup	XP_011517814.1:n.*399dup
XM_011519513.1:c.*399dup	XP_011517815.1:n.*399dup
XR_930493.1:n.5347dup
XM_011519498.2:c.*399dup	XP_011517800.1:n.*399dup
XM_011519500.2:c.*399dup	XP_011517802.1:n.*399dup
XM_011519513.2:c.*399dup	XP_011517815.1:n.*399dup
XR_001747111.1:n.4307dup
NM_017433.5:c.*399dup MANE Select	NP_059129.3:n.*399dup