Canonical Allele Identifier: CA2790593424

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509511_17509512insA , CM000673.2:g.17509511_17509512insA	GRCh38
NC_000011.9:g.17531058_17531059insA , CM000673.1:g.17531058_17531059insA	GRCh37
NC_000011.8:g.17487634_17487635insA	NCBI36
NG_011883.1:g.39905_39906insT
NG_011883.2:g.39905_39906insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1857_1858insT MANE Select	ENSP00000005226.7:p.Arg620SerfsTer?
ENST00000318024.9:c.1285-7532_1285-7531insT MANE Plus Clinical	ENSP00000317018.4:n.1285-7532_1285-7531insT
ENST00000005226.11:c.1857_1858insT	ENSP00000005226.7:p.Arg620SerfsTer?
ENST00000318024.8:c.1285-7532_1285-7531insT	ENSP00000317018.4:n.1285-7532_1285-7531insT
ENST00000526313.5:c.1211-7532_1211-7531insT	ENSP00000432236.1:n.1211-7532_1211-7531insT
ENST00000527020.5:c.1228-7532_1228-7531insT	ENSP00000436934.1:n.1228-7532_1228-7531insT
ENST00000527720.5:c.1192-7532_1192-7531insT	ENSP00000432944.1:n.1192-7532_1192-7531insT
ENST00000529563.5:n.168+6943_168+6944insT
NM_001297764.1:c.1228-7532_1228-7531insT	NP_001284693.1:n.1228-7532_1228-7531insT
NM_005709.3:c.1285-7532_1285-7531insT	NP_005700.2:n.1285-7532_1285-7531insT
NM_153676.3:c.1857_1858insT	NP_710142.1:p.Arg620SerfsTer?
NR_123738.1:n.1320-7532_1320-7531insT
XM_011519831.1:c.1881_1882insT	XP_011518133.1:p.Arg628SerfsTer?
XM_011519832.1:c.1437+2390_1437+2391insT	XP_011518134.1:n.1437+2390_1437+2391insT
XM_011519833.1:c.1334+6729_1334+6730insT	XP_011518135.1:n.1334+6729_1334+6730insT
XR_930841.1:n.1655+2390_1655+2391insT
XR_930842.1:n.1596+2390_1596+2391insT
XM_011519832.3:c.1437+2390_1437+2391insT	XP_011518134.1:n.1437+2390_1437+2391insT
XM_017017072.1:c.1881_1882insT	XP_016872561.1:p.Arg628SerfsTer?
XM_017017073.1:c.1824_1825insT	XP_016872562.1:p.Arg609SerfsTer?
XM_017017074.1:c.1555-283_1555-282insT	XP_016872563.1:n.1555-283_1555-282insT
XM_017017075.1:c.1857_1858insT	XP_016872564.1:p.Arg620SerfsTer?
XR_001747717.2:n.1443+6729_1443+6730insT
NM_153676.4:c.1857_1858insT MANE Select	NP_710142.1:p.Arg620SerfsTer?
NM_001297764.2:c.1228-7532_1228-7531insT	NP_001284693.1:n.1228-7532_1228-7531insT
NM_005709.4:c.1285-7532_1285-7531insT MANE Plus Clinical	NP_005700.2:n.1285-7532_1285-7531insT
NR_123738.2:n.1320-7532_1320-7531insT