Canonical Allele Identifier: CA2790593459

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509548_17509550del , CM000673.2:g.17509548_17509550del	GRCh38
NC_000011.9:g.17531095_17531097del , CM000673.1:g.17531095_17531097del	GRCh37
NC_000011.8:g.17487671_17487673del	NCBI36
NG_011883.1:g.39869_39871del
NG_011883.2:g.39869_39871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1821_1823del MANE Select	ENSP00000005226.7:p.Pro608del
ENST00000318024.9:c.1285-7568_1285-7566del MANE Plus Clinical	ENSP00000317018.4:n.1285-7568_1285-7566del
ENST00000005226.11:c.1821_1823del	ENSP00000005226.7:p.Pro608del
ENST00000318024.8:c.1285-7568_1285-7566del	ENSP00000317018.4:n.1285-7568_1285-7566del
ENST00000526313.5:c.1211-7568_1211-7566del	ENSP00000432236.1:n.1211-7568_1211-7566del
ENST00000527020.5:c.1228-7568_1228-7566del	ENSP00000436934.1:n.1228-7568_1228-7566del
ENST00000527720.5:c.1192-7568_1192-7566del	ENSP00000432944.1:n.1192-7568_1192-7566del
ENST00000529563.5:n.168+6907_168+6909del
NM_001297764.1:c.1228-7568_1228-7566del	NP_001284693.1:n.1228-7568_1228-7566del
NM_005709.3:c.1285-7568_1285-7566del	NP_005700.2:n.1285-7568_1285-7566del
NM_153676.3:c.1821_1823del	NP_710142.1:p.Pro608del
NR_123738.1:n.1320-7568_1320-7566del
XM_011519831.1:c.1845_1847del	XP_011518133.1:p.Pro616del
XM_011519832.1:c.1437+2354_1437+2356del	XP_011518134.1:n.1437+2354_1437+2356del
XM_011519833.1:c.1334+6693_1334+6695del	XP_011518135.1:n.1334+6693_1334+6695del
XR_930841.1:n.1655+2354_1655+2356del
XR_930842.1:n.1596+2354_1596+2356del
XM_011519832.3:c.1437+2354_1437+2356del	XP_011518134.1:n.1437+2354_1437+2356del
XM_017017072.1:c.1845_1847del	XP_016872561.1:p.Pro616del
XM_017017073.1:c.1788_1790del	XP_016872562.1:p.Pro597del
XM_017017074.1:c.1555-319_1555-317del	XP_016872563.1:n.1555-319_1555-317del
XM_017017075.1:c.1821_1823del	XP_016872564.1:p.Pro608del
XR_001747717.2:n.1443+6693_1443+6695del
NM_153676.4:c.1821_1823del MANE Select	NP_710142.1:p.Pro608del
NM_001297764.2:c.1228-7568_1228-7566del	NP_001284693.1:n.1228-7568_1228-7566del
NM_005709.4:c.1285-7568_1285-7566del MANE Plus Clinical	NP_005700.2:n.1285-7568_1285-7566del
NR_123738.2:n.1320-7568_1320-7566del