Canonical Allele Identifier: CA5445132

Gene: MYO3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26166070del , CM000672.2:g.26166070del	GRCh38
NC_000010.10:g.26454999del , CM000672.1:g.26454999del	GRCh37
NC_000010.9:g.26495005del	NCBI36
NG_011635.1:g.236998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477691.2:n.229del
ENST00000642197.1:n.3207del
ENST00000642920.2:c.3003del MANE Select	ENSP00000495965.1:p.Tyr1002ThrfsTer13
ENST00000647478.1:c.*998del	ENSP00000493932.1:n.*998del
ENST00000265944.9:c.3003del	ENSP00000265944.4:p.Tyr1002ThrfsTer13
ENST00000477691.1:n.229del
ENST00000543632.5:c.1777-45773del	ENSP00000445909.1:n.1777-45773del
NM_017433.4:c.3003del	NP_059129.3:p.Tyr1002ThrfsTer13
XM_011519498.1:c.3003del	XP_011517800.1:p.Tyr1002ThrfsTer13
XM_011519499.1:c.3003del	XP_011517801.1:p.Tyr1002ThrfsTer13
XM_011519500.1:c.3003del	XP_011517802.1:p.Tyr1002ThrfsTer13
XM_011519501.1:c.3003del	XP_011517803.1:p.Tyr1002ThrfsTer13
XM_011519502.1:c.3003del	XP_011517804.1:p.Tyr1002ThrfsTer13
XM_011519503.1:c.3003del	XP_011517805.1:p.Tyr1002ThrfsTer13
XM_011519504.1:c.3003del	XP_011517806.1:p.Tyr1002ThrfsTer13
XM_011519505.1:c.3003del	XP_011517807.1:p.Tyr1002ThrfsTer13
XM_011519506.1:c.3003del	XP_011517808.1:p.Tyr1002ThrfsTer13
XM_011519507.1:c.2640del	XP_011517809.1:p.Tyr881ThrfsTer13
XM_011519508.1:c.3003del	XP_011517810.1:p.Tyr1002ThrfsTer13
XM_011519509.1:c.3003del	XP_011517811.1:p.Tyr1002ThrfsTer13
XM_011519510.1:c.3003del	XP_011517812.1:p.Tyr1002ThrfsTer13
XM_011519512.1:c.1131del	XP_011517814.1:p.Tyr378ThrfsTer13
XM_011519513.1:c.672del	XP_011517815.1:p.Tyr225ThrfsTer13
XR_930492.1:n.3207del
XR_930493.1:n.3207del
XR_930494.1:n.3207del
XR_930760.1:n.178+2411del
XM_011519498.2:c.3003del	XP_011517800.1:p.Tyr1002ThrfsTer13
XM_011519500.2:c.3003del	XP_011517802.1:p.Tyr1002ThrfsTer13
XM_011519506.2:c.3003del	XP_011517808.1:p.Tyr1002ThrfsTer13
XM_011519508.2:c.3003del	XP_011517810.1:p.Tyr1002ThrfsTer13
XM_011519510.2:c.3003del	XP_011517812.1:p.Tyr1002ThrfsTer13
XM_011519513.2:c.672del	XP_011517815.1:p.Tyr225ThrfsTer13
XR_001747111.1:n.3207del
NM_017433.5:c.3003del MANE Select	NP_059129.3:p.Tyr1002ThrfsTer13