Canonical Allele Identifier: CA2612677240

Gene: USH1C

Linked Data

• gnomAD v4: 11-17509470-ATGGTTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509472_17509478del , CM000673.2:g.17509472_17509478del	GRCh38
NC_000011.9:g.17531019_17531025del , CM000673.1:g.17531019_17531025del	GRCh37
NC_000011.8:g.17487595_17487601del	NCBI36
NG_011883.1:g.39940_39946del
NG_011883.2:g.39940_39946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1892_1898del MANE Select	ENSP00000005226.7:p.Ser631IlefsTer?
ENST00000318024.9:c.1285-7497_1285-7491del MANE Plus Clinical	ENSP00000317018.4:n.1285-7497_1285-7491del
ENST00000005226.11:c.1892_1898del	ENSP00000005226.7:p.Ser631IlefsTer?
ENST00000318024.8:c.1285-7497_1285-7491del	ENSP00000317018.4:n.1285-7497_1285-7491del
ENST00000526313.5:c.1211-7497_1211-7491del	ENSP00000432236.1:n.1211-7497_1211-7491del
ENST00000527020.5:c.1228-7497_1228-7491del	ENSP00000436934.1:n.1228-7497_1228-7491del
ENST00000527720.5:c.1192-7497_1192-7491del	ENSP00000432944.1:n.1192-7497_1192-7491del
ENST00000529563.5:n.168+6978_168+6984del
NM_001297764.1:c.1228-7497_1228-7491del	NP_001284693.1:n.1228-7497_1228-7491del
NM_005709.3:c.1285-7497_1285-7491del	NP_005700.2:n.1285-7497_1285-7491del
NM_153676.3:c.1892_1898del	NP_710142.1:p.Ser631IlefsTer?
NR_123738.1:n.1320-7497_1320-7491del
XM_011519831.1:c.1916_1922del	XP_011518133.1:p.Ser639IlefsTer?
XM_011519832.1:c.1437+2425_1437+2431del	XP_011518134.1:n.1437+2425_1437+2431del
XM_011519833.1:c.1334+6764_1334+6770del	XP_011518135.1:n.1334+6764_1334+6770del
XR_930841.1:n.1655+2425_1655+2431del
XR_930842.1:n.1596+2425_1596+2431del
XM_011519832.3:c.1437+2425_1437+2431del	XP_011518134.1:n.1437+2425_1437+2431del
XM_017017072.1:c.1916_1922del	XP_016872561.1:p.Ser639IlefsTer?
XM_017017073.1:c.1859_1865del	XP_016872562.1:p.Ser620IlefsTer?
XM_017017074.1:c.1555-248_1555-242del	XP_016872563.1:n.1555-248_1555-242del
XM_017017075.1:c.1892_1898del	XP_016872564.1:p.Ser631IlefsTer?
XR_001747717.2:n.1443+6764_1443+6770del
NM_153676.4:c.1892_1898del MANE Select	NP_710142.1:p.Ser631IlefsTer?
NM_001297764.2:c.1228-7497_1228-7491del	NP_001284693.1:n.1228-7497_1228-7491del
NM_005709.4:c.1285-7497_1285-7491del MANE Plus Clinical	NP_005700.2:n.1285-7497_1285-7491del
NR_123738.2:n.1320-7497_1320-7491del