Canonical Allele Identifier: CA1897913668
Gene: MYO3A HGNC NCBI

Linked Data

dbSNP Id: rs1841998988

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26170548_26170550del , CM000672.2:g.26170548_26170550del GRCh38
NC_000010.10:g.26459477_26459479del , CM000672.1:g.26459477_26459479del GRCh37
NC_000010.9:g.26499483_26499485del NCBI36
NG_011635.1:g.241476_241478del

Transcript Alleles

HGVS Amino-acid change
ENST00000642920.2:c.3398+9_3398+11del MANE Select ENSP00000495965.1:n.3398+9_3398+11del
ENST00000647478.1:c.*1393+9_*1393+11del ENSP00000493932.1:n.*1393+9_*1393+11del
ENST00000265944.9:c.3398+9_3398+11del ENSP00000265944.4:n.3398+9_3398+11del
ENST00000543632.5:c.1777-41295_1777-41293del ENSP00000445909.1:n.1777-41295_1777-41293del
NM_017433.4:c.3398+9_3398+11del NP_059129.3:n.3398+9_3398+11del
XM_011519498.1:c.3398+9_3398+11del XP_011517800.1:n.3398+9_3398+11del
XM_011519499.1:c.3398+9_3398+11del XP_011517801.1:n.3398+9_3398+11del
XM_011519500.1:c.3398+9_3398+11del XP_011517802.1:n.3398+9_3398+11del
XM_011519501.1:c.3398+9_3398+11del XP_011517803.1:n.3398+9_3398+11del
XM_011519502.1:c.3398+9_3398+11del XP_011517804.1:n.3398+9_3398+11del
XM_011519503.1:c.3398+9_3398+11del XP_011517805.1:n.3398+9_3398+11del
XM_011519504.1:c.3398+9_3398+11del XP_011517806.1:n.3398+9_3398+11del
XM_011519505.1:c.3398+9_3398+11del XP_011517807.1:n.3398+9_3398+11del
XM_011519506.1:c.3398+9_3398+11del XP_011517808.1:n.3398+9_3398+11del
XM_011519507.1:c.3035+9_3035+11del XP_011517809.1:n.3035+9_3035+11del
XM_011519508.1:c.3398+9_3398+11del XP_011517810.1:n.3398+9_3398+11del
XM_011519509.1:c.3398+9_3398+11del XP_011517811.1:n.3398+9_3398+11del
XM_011519510.1:c.3398+9_3398+11del XP_011517812.1:n.3398+9_3398+11del
XM_011519512.1:c.1526+9_1526+11del XP_011517814.1:n.1526+9_1526+11del
XM_011519513.1:c.1067+9_1067+11del XP_011517815.1:n.1067+9_1067+11del
XR_930492.1:n.3602+9_3602+11del
XR_930493.1:n.3602+9_3602+11del
XR_930494.1:n.3602+9_3602+11del
XM_011519498.2:c.3398+9_3398+11del XP_011517800.1:n.3398+9_3398+11del
XM_011519500.2:c.3398+9_3398+11del XP_011517802.1:n.3398+9_3398+11del
XM_011519506.2:c.3398+9_3398+11del XP_011517808.1:n.3398+9_3398+11del
XM_011519508.2:c.3398+9_3398+11del XP_011517810.1:n.3398+9_3398+11del
XM_011519510.2:c.3398+9_3398+11del XP_011517812.1:n.3398+9_3398+11del
XM_011519513.2:c.1067+9_1067+11del XP_011517815.1:n.1067+9_1067+11del
XR_001747111.1:n.3602+9_3602+11del
NM_017433.5:c.3398+9_3398+11del MANE Select NP_059129.3:n.3398+9_3398+11del