Canonical Allele Identifier: CA2739270702

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2810464
• ClinVar RCV Id: RCV003682458

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77190111_77190112insT , CM000673.2:g.77190111_77190112insT	GRCh38
NC_000011.9:g.76901156_76901157insT , CM000673.1:g.76901156_76901157insT	GRCh37
NC_000011.8:g.76578804_76578805insT	NCBI36
NG_009086.1:g.66847_66848insT
NG_009086.2:g.66866_66867insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.3722_3723insT MANE Select	ENSP00000386331.3:p.Gln1242ThrfsTer?
ENST00000670577.1:c.1563_1564insT
ENST00000409619.6:c.3689_3690insT	ENSP00000386635.2:p.Gln1231ThrfsTer?
ENST00000409709.7:c.3722_3723insT	ENSP00000386331.3:p.Gln1242ThrfsTer?
ENST00000458169.2:c.1265_1266insT	ENSP00000417017.2:p.Gln423ThrfsTer?
ENST00000458637.6:c.3722_3723insT	ENSP00000392185.2:p.Gln1242ThrfsTer?
ENST00000467137.1:n.249_250insT
ENST00000481328.7:n.1265_1266insT
NM_000260.3:c.3722_3723insT	NP_000251.3:p.Gln1242ThrfsTer?
NM_001127180.1:c.3722_3723insT	NP_001120652.1:p.Gln1242ThrfsTer?
XM_005274012.2:c.3722_3723insT	XP_005274069.1:p.Gln1242ThrfsTer?
XM_006718558.2:c.3722_3723insT	XP_006718621.1:p.Gln1242ThrfsTer?
XM_006718559.2:c.3722_3723insT	XP_006718622.1:p.Gln1242ThrfsTer?
XM_006718560.2:c.3722_3723insT	XP_006718623.1:p.Gln1242ThrfsTer?
XM_006718561.2:c.3722_3723insT	XP_006718624.1:p.Gln1242ThrfsTer?
XM_011545044.1:c.3722_3723insT	XP_011543346.1:p.Gln1242ThrfsTer?
XM_011545045.1:c.3722_3723insT	XP_011543347.1:p.Gln1242ThrfsTer?
XM_011545046.1:c.3689_3690insT	XP_011543348.1:p.Gln1231ThrfsTer?
XM_011545047.1:c.3632_3633insT	XP_011543349.1:p.Gln1212ThrfsTer?
XM_011545048.1:c.3503_3504insT	XP_011543350.1:p.Gln1169ThrfsTer?
XM_011545049.1:c.3491_3492insT	XP_011543351.1:p.Gln1165ThrfsTer?
XM_011545050.1:c.3464_3465insT	XP_011543352.1:p.Gln1156ThrfsTer?
XM_011545051.1:c.3722_3723insT	XP_011543353.1:p.Gln1242ThrfsTer?
XM_011545052.1:c.3722_3723insT	XP_011543354.1:p.Gln1242ThrfsTer?
XR_949938.1:n.4042_4043insT
XR_949941.1:n.4042_4043insT
XR_949942.1:n.4044_4045insT
XR_949943.1:n.4044_4045insT
XM_011545044.2:c.3722_3723insT	XP_011543346.1:p.Gln1242ThrfsTer?
XM_011545046.2:c.3812_3813insT	XP_011543348.2:p.Gln1272ThrfsTer?
XM_011545050.2:c.3464_3465insT	XP_011543352.1:p.Gln1156ThrfsTer?
XM_017017778.1:c.3812_3813insT	XP_016873267.1:p.Gln1272ThrfsTer?
XM_017017779.1:c.3812_3813insT	XP_016873268.1:p.Gln1272ThrfsTer?
XM_017017780.1:c.3812_3813insT	XP_016873269.1:p.Gln1272ThrfsTer?
XM_017017781.1:c.3722_3723insT	XP_016873270.1:p.Gln1242ThrfsTer?
XM_017017782.1:c.3812_3813insT	XP_016873271.1:p.Gln1272ThrfsTer?
XM_017017783.1:c.3812_3813insT	XP_016873272.1:p.Gln1272ThrfsTer?
XM_017017784.1:c.3812_3813insT	XP_016873273.1:p.Gln1272ThrfsTer?
XM_017017785.1:c.3581_3582insT	XP_016873274.1:p.Gln1195ThrfsTer?
XM_017017786.1:c.3812_3813insT	XP_016873275.1:p.Gln1272ThrfsTer?
XM_017017787.1:c.3812_3813insT	XP_016873276.1:p.Gln1272ThrfsTer?
XM_017017788.1:c.3812_3813insT	XP_016873277.1:p.Gln1272ThrfsTer?
XR_001747885.1:n.3827_3828insT
XR_001747886.1:n.3827_3828insT
XR_001747887.1:n.3827_3828insT
XR_001747888.1:n.3827_3828insT
XR_001747889.1:n.3827_3828insT
NM_000260.4:c.3722_3723insT MANE Select	NP_000251.3:p.Gln1242ThrfsTer?
NM_001127180.2:c.3722_3723insT	NP_001120652.1:p.Gln1242ThrfsTer?
NM_001369365.1:c.3689_3690insT	NP_001356294.1:p.Gln1231ThrfsTer?