Canonical Allele Identifier: CA2790593437

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509534_17509536del , CM000673.2:g.17509534_17509536del	GRCh38
NC_000011.9:g.17531081_17531083del , CM000673.1:g.17531081_17531083del	GRCh37
NC_000011.8:g.17487657_17487659del	NCBI36
NG_011883.1:g.39881_39883del
NG_011883.2:g.39881_39883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1833_1835del MANE Select	ENSP00000005226.7:p.Pro612del
ENST00000318024.9:c.1285-7556_1285-7554del MANE Plus Clinical	ENSP00000317018.4:n.1285-7556_1285-7554del
ENST00000005226.11:c.1833_1835del	ENSP00000005226.7:p.Pro612del
ENST00000318024.8:c.1285-7556_1285-7554del	ENSP00000317018.4:n.1285-7556_1285-7554del
ENST00000526313.5:c.1211-7556_1211-7554del	ENSP00000432236.1:n.1211-7556_1211-7554del
ENST00000527020.5:c.1228-7556_1228-7554del	ENSP00000436934.1:n.1228-7556_1228-7554del
ENST00000527720.5:c.1192-7556_1192-7554del	ENSP00000432944.1:n.1192-7556_1192-7554del
ENST00000529563.5:n.168+6919_168+6921del
NM_001297764.1:c.1228-7556_1228-7554del	NP_001284693.1:n.1228-7556_1228-7554del
NM_005709.3:c.1285-7556_1285-7554del	NP_005700.2:n.1285-7556_1285-7554del
NM_153676.3:c.1833_1835del	NP_710142.1:p.Pro612del
NR_123738.1:n.1320-7556_1320-7554del
XM_011519831.1:c.1857_1859del	XP_011518133.1:p.Pro620del
XM_011519832.1:c.1437+2366_1437+2368del	XP_011518134.1:n.1437+2366_1437+2368del
XM_011519833.1:c.1334+6705_1334+6707del	XP_011518135.1:n.1334+6705_1334+6707del
XR_930841.1:n.1655+2366_1655+2368del
XR_930842.1:n.1596+2366_1596+2368del
XM_011519832.3:c.1437+2366_1437+2368del	XP_011518134.1:n.1437+2366_1437+2368del
XM_017017072.1:c.1857_1859del	XP_016872561.1:p.Pro620del
XM_017017073.1:c.1800_1802del	XP_016872562.1:p.Pro601del
XM_017017074.1:c.1555-307_1555-305del	XP_016872563.1:n.1555-307_1555-305del
XM_017017075.1:c.1833_1835del	XP_016872564.1:p.Pro612del
XR_001747717.2:n.1443+6705_1443+6707del
NM_153676.4:c.1833_1835del MANE Select	NP_710142.1:p.Pro612del
NM_001297764.2:c.1228-7556_1228-7554del	NP_001284693.1:n.1228-7556_1228-7554del
NM_005709.4:c.1285-7556_1285-7554del MANE Plus Clinical	NP_005700.2:n.1285-7556_1285-7554del
NR_123738.2:n.1320-7556_1320-7554del