Canonical Allele Identifier: CA592355765

Gene: MYO3A

Linked Data

• dbSNP Id: rs1342582614
• gnomAD v2: 10-26501070-CAA-C
• gnomAD v3: 10-26212141-CAA-C
• gnomAD v4: 10-26212141-CAA-C
• MyVariant Identifiers: chr10:g.26501071_26501072del (hg19) ; chr10:g.26212142_26212143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26212142_26212143del , CM000672.2:g.26212142_26212143del	GRCh38
NC_000010.10:g.26501071_26501072del , CM000672.1:g.26501071_26501072del	GRCh37
NC_000010.9:g.26541077_26541078del	NCBI36
NG_011635.1:g.283070_283071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642920.2:c.*179_*180del MANE Select	ENSP00000495965.1:n.*179_*180del
ENST00000644253.1:n.696_697del
ENST00000645292.1:n.490_491del
ENST00000647478.1:c.*1841_*1842del	ENSP00000493932.1:n.*1841_*1842del
ENST00000265944.9:c.*179_*180del	ENSP00000265944.4:n.*179_*180del
ENST00000543632.5:c.*81_*82del	ENSP00000445909.1:n.*81_*82del
NM_017433.4:c.*179_*180del	NP_059129.3:n.*179_*180del
XM_011519498.1:c.*179_*180del	XP_011517800.1:n.*179_*180del
XM_011519499.1:c.*179_*180del	XP_011517801.1:n.*179_*180del
XM_011519500.1:c.*179_*180del	XP_011517802.1:n.*179_*180del
XM_011519501.1:c.*179_*180del	XP_011517803.1:n.*179_*180del
XM_011519504.1:c.*81_*82del	XP_011517806.1:n.*81_*82del
XM_011519505.1:c.*179_*180del	XP_011517807.1:n.*179_*180del
XM_011519507.1:c.*179_*180del	XP_011517809.1:n.*179_*180del
XM_011519512.1:c.*179_*180del	XP_011517814.1:n.*179_*180del
XM_011519513.1:c.*179_*180del	XP_011517815.1:n.*179_*180del
XR_930493.1:n.5127_5128del
XM_011519498.2:c.*179_*180del	XP_011517800.1:n.*179_*180del
XM_011519500.2:c.*179_*180del	XP_011517802.1:n.*179_*180del
XM_011519513.2:c.*179_*180del	XP_011517815.1:n.*179_*180del
XR_001747111.1:n.4087_4088del
NM_017433.5:c.*179_*180del MANE Select	NP_059129.3:n.*179_*180del