Canonical Allele Identifier: CA2790593415

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509508_17509509insAGA , CM000673.2:g.17509508_17509509insAGA	GRCh38
NC_000011.9:g.17531055_17531056insAGA , CM000673.1:g.17531055_17531056insAGA	GRCh37
NC_000011.8:g.17487631_17487632insAGA	NCBI36
NG_011883.1:g.39908_39909insTCT
NG_011883.2:g.39908_39909insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1860_1861insTCT MANE Select	ENSP00000005226.7:p.Arg620_Pro621insSer
ENST00000318024.9:c.1285-7529_1285-7528insTCT MANE Plus Clinical	ENSP00000317018.4:n.1285-7529_1285-7528insTCT
ENST00000005226.11:c.1860_1861insTCT	ENSP00000005226.7:p.Arg620_Pro621insSer
ENST00000318024.8:c.1285-7529_1285-7528insTCT	ENSP00000317018.4:n.1285-7529_1285-7528insTCT
ENST00000526313.5:c.1211-7529_1211-7528insTCT	ENSP00000432236.1:n.1211-7529_1211-7528insTCT
ENST00000527020.5:c.1228-7529_1228-7528insTCT	ENSP00000436934.1:n.1228-7529_1228-7528insTCT
ENST00000527720.5:c.1192-7529_1192-7528insTCT	ENSP00000432944.1:n.1192-7529_1192-7528insTCT
ENST00000529563.5:n.168+6946_168+6947insTCT
NM_001297764.1:c.1228-7529_1228-7528insTCT	NP_001284693.1:n.1228-7529_1228-7528insTCT
NM_005709.3:c.1285-7529_1285-7528insTCT	NP_005700.2:n.1285-7529_1285-7528insTCT
NM_153676.3:c.1860_1861insTCT	NP_710142.1:p.Arg620_Pro621insSer
NR_123738.1:n.1320-7529_1320-7528insTCT
XM_011519831.1:c.1884_1885insTCT	XP_011518133.1:p.Arg628_Pro629insSer
XM_011519832.1:c.1437+2393_1437+2394insTCT	XP_011518134.1:n.1437+2393_1437+2394insTCT
XM_011519833.1:c.1334+6732_1334+6733insTCT	XP_011518135.1:n.1334+6732_1334+6733insTCT
XR_930841.1:n.1655+2393_1655+2394insTCT
XR_930842.1:n.1596+2393_1596+2394insTCT
XM_011519832.3:c.1437+2393_1437+2394insTCT	XP_011518134.1:n.1437+2393_1437+2394insTCT
XM_017017072.1:c.1884_1885insTCT	XP_016872561.1:p.Arg628_Pro629insSer
XM_017017073.1:c.1827_1828insTCT	XP_016872562.1:p.Arg609_Pro610insSer
XM_017017074.1:c.1555-280_1555-279insTCT	XP_016872563.1:n.1555-280_1555-279insTCT
XM_017017075.1:c.1860_1861insTCT	XP_016872564.1:p.Arg620_Pro621insSer
XR_001747717.2:n.1443+6732_1443+6733insTCT
NM_153676.4:c.1860_1861insTCT MANE Select	NP_710142.1:p.Arg620_Pro621insSer
NM_001297764.2:c.1228-7529_1228-7528insTCT	NP_001284693.1:n.1228-7529_1228-7528insTCT
NM_005709.4:c.1285-7529_1285-7528insTCT MANE Plus Clinical	NP_005700.2:n.1285-7529_1285-7528insTCT
NR_123738.2:n.1320-7529_1320-7528insTCT