Canonical Allele Identifier: CA5444353

Gene: MYO3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26016866del , CM000672.2:g.26016866del	GRCh38
NC_000010.10:g.26305795del , CM000672.1:g.26305795del	GRCh37
NC_000010.9:g.26345801del	NCBI36
NG_011635.1:g.87794del

Transcript Alleles

HGVS	Amino-acid Change
NM_017433.5:c.555del MANE Select	NP_059129.3:p.Val186Ter
ENST00000642920.2:c.555del MANE Select	ENSP00000495965.1:p.Val186Ter
NM_001368265.1:c.555del	NP_001355194.1:p.Val186Ter
NM_017433.4:c.555del	NP_059129.3:p.Val186Ter
ENST00000265944.9:c.555del	ENSP00000265944.4:p.Val186Ter
ENST00000376301.1:c.555del	ENSP00000365478.1:p.Val186Ter
ENST00000376301.2:n.566del
ENST00000376302.5:c.555del	ENSP00000365479.1:p.Val186Ter
ENST00000543632.5:c.555del	ENSP00000445909.1:p.Val186Ter
ENST00000642197.1:n.759del
ENST00000647478.1:c.555del	ENSP00000493932.1:p.Val186Ter
XM_011519498.1:c.555del	XP_011517800.1:p.Val186Ter
XM_011519498.2:c.555del	XP_011517800.1:p.Val186Ter
XM_011519499.1:c.555del	XP_011517801.1:p.Val186Ter
XM_011519500.1:c.555del	XP_011517802.1:p.Val186Ter
XM_011519500.2:c.555del	XP_011517802.1:p.Val186Ter
XM_011519501.1:c.555del	XP_011517803.1:p.Val186Ter
XM_011519502.1:c.555del	XP_011517804.1:p.Val186Ter
XM_011519503.1:c.555del	XP_011517805.1:p.Val186Ter
XM_011519504.1:c.555del	XP_011517806.1:p.Val186Ter
XM_011519505.1:c.555del	XP_011517807.1:p.Val186Ter
XM_011519506.1:c.555del	XP_011517808.1:p.Val186Ter
XM_011519506.2:c.555del	XP_011517808.1:p.Val186Ter
XM_011519507.1:c.192del	XP_011517809.1:p.Val65Ter
XM_011519508.1:c.555del	XP_011517810.1:p.Val186Ter
XM_011519508.2:c.555del	XP_011517810.1:p.Val186Ter
XM_011519509.1:c.555del	XP_011517811.1:p.Val186Ter
XM_011519510.1:c.555del	XP_011517812.1:p.Val186Ter
XM_011519510.2:c.555del	XP_011517812.1:p.Val186Ter
XM_011519511.1:c.555del	XP_011517813.1:p.Val186Ter
XM_011519511.2:c.555del	XP_011517813.1:p.Val186Ter
XR_001747111.1:n.759del
XR_930492.1:n.759del
XR_930493.1:n.759del
XR_930494.1:n.759del