Canonical Allele Identifier: CA2573147732

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1506451
• ClinVar RCV Id: RCV002035992
• dbSNP Id: rs2135549265

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77189345_77189346delinsCT , CM000673.2:g.77189345_77189346delinsCT	GRCh38
NC_000011.9:g.76900390_76900391delinsCT , CM000673.1:g.76900390_76900391delinsCT	GRCh37
NC_000011.8:g.76578038_76578039delinsCT	NCBI36
NG_009086.1:g.66081_66082delinsCT
NG_009086.2:g.66100_66101delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.3505_3506delinsCT MANE Select	ENSP00000386331.3:p.Asp1169Leu
ENST00000670577.1:c.1346_1347delinsCT
ENST00000409619.6:c.3472_3473delinsCT	ENSP00000386635.2:p.Asp1158Leu
ENST00000409709.7:c.3505_3506delinsCT	ENSP00000386331.3:p.Asp1169Leu
ENST00000458169.2:c.1048_1049delinsCT	ENSP00000417017.2:p.Asp350Leu
ENST00000458637.6:c.3505_3506delinsCT	ENSP00000392185.2:p.Asp1169Leu
ENST00000467137.1:n.32_33delinsCT
ENST00000481328.7:n.1048_1049delinsCT
NM_000260.3:c.3505_3506delinsCT	NP_000251.3:p.Asp1169Leu
NM_001127180.1:c.3505_3506delinsCT	NP_001120652.1:p.Asp1169Leu
XM_005274012.2:c.3505_3506delinsCT	XP_005274069.1:p.Asp1169Leu
XM_006718558.2:c.3505_3506delinsCT	XP_006718621.1:p.Asp1169Leu
XM_006718559.2:c.3505_3506delinsCT	XP_006718622.1:p.Asp1169Leu
XM_006718560.2:c.3505_3506delinsCT	XP_006718623.1:p.Asp1169Leu
XM_006718561.2:c.3505_3506delinsCT	XP_006718624.1:p.Asp1169Leu
XM_011545044.1:c.3505_3506delinsCT	XP_011543346.1:p.Asp1169Leu
XM_011545045.1:c.3505_3506delinsCT	XP_011543347.1:p.Asp1169Leu
XM_011545046.1:c.3472_3473delinsCT	XP_011543348.1:p.Asp1158Leu
XM_011545047.1:c.3415_3416delinsCT	XP_011543349.1:p.Asp1139Leu
XM_011545048.1:c.3286_3287delinsCT	XP_011543350.1:p.Asp1096Leu
XM_011545049.1:c.3274_3275delinsCT	XP_011543351.1:p.Asp1092Leu
XM_011545050.1:c.3247_3248delinsCT	XP_011543352.1:p.Asp1083Leu
XM_011545051.1:c.3505_3506delinsCT	XP_011543353.1:p.Asp1169Leu
XM_011545052.1:c.3505_3506delinsCT	XP_011543354.1:p.Asp1169Leu
XR_949938.1:n.3825_3826delinsCT
XR_949941.1:n.3825_3826delinsCT
XR_949942.1:n.3827_3828delinsCT
XR_949943.1:n.3827_3828delinsCT
XM_011545044.2:c.3505_3506delinsCT	XP_011543346.1:p.Asp1169Leu
XM_011545046.2:c.3595_3596delinsCT	XP_011543348.2:p.Asp1199Leu
XM_011545050.2:c.3247_3248delinsCT	XP_011543352.1:p.Asp1083Leu
XM_017017778.1:c.3595_3596delinsCT	XP_016873267.1:p.Asp1199Leu
XM_017017779.1:c.3595_3596delinsCT	XP_016873268.1:p.Asp1199Leu
XM_017017780.1:c.3595_3596delinsCT	XP_016873269.1:p.Asp1199Leu
XM_017017781.1:c.3505_3506delinsCT	XP_016873270.1:p.Asp1169Leu
XM_017017782.1:c.3595_3596delinsCT	XP_016873271.1:p.Asp1199Leu
XM_017017783.1:c.3595_3596delinsCT	XP_016873272.1:p.Asp1199Leu
XM_017017784.1:c.3595_3596delinsCT	XP_016873273.1:p.Asp1199Leu
XM_017017785.1:c.3364_3365delinsCT	XP_016873274.1:p.Asp1122Leu
XM_017017786.1:c.3595_3596delinsCT	XP_016873275.1:p.Asp1199Leu
XM_017017787.1:c.3595_3596delinsCT	XP_016873276.1:p.Asp1199Leu
XM_017017788.1:c.3595_3596delinsCT	XP_016873277.1:p.Asp1199Leu
XR_001747885.1:n.3610_3611delinsCT
XR_001747886.1:n.3610_3611delinsCT
XR_001747887.1:n.3610_3611delinsCT
XR_001747888.1:n.3610_3611delinsCT
XR_001747889.1:n.3610_3611delinsCT
NM_000260.4:c.3505_3506delinsCT MANE Select	NP_000251.3:p.Asp1169Leu
NM_001127180.2:c.3505_3506delinsCT	NP_001120652.1:p.Asp1169Leu
NM_001369365.1:c.3472_3473delinsCT	NP_001356294.1:p.Asp1158Leu