Canonical Allele Identifier: CA2574769582

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509560_17509564del , CM000673.2:g.17509560_17509564del	GRCh38
NC_000011.9:g.17531107_17531111del , CM000673.1:g.17531107_17531111del	GRCh37
NC_000011.8:g.17487683_17487687del	NCBI36
NG_011883.1:g.39855_39859del
NG_011883.2:g.39855_39859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1807_1811del MANE Select	ENSP00000005226.7:p.Ile603HisfsTer?
ENST00000318024.9:c.1285-7582_1285-7578del MANE Plus Clinical	ENSP00000317018.4:n.1285-7582_1285-7578del
ENST00000005226.11:c.1807_1811del	ENSP00000005226.7:p.Ile603HisfsTer?
ENST00000318024.8:c.1285-7582_1285-7578del	ENSP00000317018.4:n.1285-7582_1285-7578del
ENST00000526313.5:c.1211-7582_1211-7578del	ENSP00000432236.1:n.1211-7582_1211-7578del
ENST00000527020.5:c.1228-7582_1228-7578del	ENSP00000436934.1:n.1228-7582_1228-7578del
ENST00000527720.5:c.1192-7582_1192-7578del	ENSP00000432944.1:n.1192-7582_1192-7578del
ENST00000529563.5:n.168+6893_168+6897del
NM_001297764.1:c.1228-7582_1228-7578del	NP_001284693.1:n.1228-7582_1228-7578del
NM_005709.3:c.1285-7582_1285-7578del	NP_005700.2:n.1285-7582_1285-7578del
NM_153676.3:c.1807_1811del	NP_710142.1:p.Ile603HisfsTer?
NR_123738.1:n.1320-7582_1320-7578del
XM_011519831.1:c.1831_1835del	XP_011518133.1:p.Ile611HisfsTer?
XM_011519832.1:c.1437+2340_1437+2344del	XP_011518134.1:n.1437+2340_1437+2344del
XM_011519833.1:c.1334+6679_1334+6683del	XP_011518135.1:n.1334+6679_1334+6683del
XR_930841.1:n.1655+2340_1655+2344del
XR_930842.1:n.1596+2340_1596+2344del
XM_011519832.3:c.1437+2340_1437+2344del	XP_011518134.1:n.1437+2340_1437+2344del
XM_017017072.1:c.1831_1835del	XP_016872561.1:p.Ile611HisfsTer?
XM_017017073.1:c.1774_1778del	XP_016872562.1:p.Ile592HisfsTer?
XM_017017074.1:c.1555-333_1555-329del	XP_016872563.1:n.1555-333_1555-329del
XM_017017075.1:c.1807_1811del	XP_016872564.1:p.Ile603HisfsTer?
XR_001747717.2:n.1443+6679_1443+6683del
NM_153676.4:c.1807_1811del MANE Select	NP_710142.1:p.Ile603HisfsTer?
NM_001297764.2:c.1228-7582_1228-7578del	NP_001284693.1:n.1228-7582_1228-7578del
NM_005709.4:c.1285-7582_1285-7578del MANE Plus Clinical	NP_005700.2:n.1285-7582_1285-7578del
NR_123738.2:n.1320-7582_1320-7578del