Canonical Allele Identifier: CA2612676994

Gene: USH1C

Linked Data

• gnomAD v4: 11-17509312-ACTCTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509315_17509320del , CM000673.2:g.17509315_17509320del	GRCh38
NC_000011.9:g.17530862_17530867del , CM000673.1:g.17530862_17530867del	GRCh37
NC_000011.8:g.17487438_17487443del	NCBI36
NG_011883.1:g.40099_40104del
NG_011883.2:g.40099_40104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2013+38_2013+43del MANE Select	ENSP00000005226.7:n.2013+38_2013+43del
ENST00000318024.9:c.1285-7338_1285-7333del MANE Plus Clinical	ENSP00000317018.4:n.1285-7338_1285-7333del
ENST00000005226.11:c.2013+38_2013+43del	ENSP00000005226.7:n.2013+38_2013+43del
ENST00000318024.8:c.1285-7338_1285-7333del	ENSP00000317018.4:n.1285-7338_1285-7333del
ENST00000526313.5:c.1211-7338_1211-7333del	ENSP00000432236.1:n.1211-7338_1211-7333del
ENST00000527020.5:c.1228-7338_1228-7333del	ENSP00000436934.1:n.1228-7338_1228-7333del
ENST00000527720.5:c.1192-7338_1192-7333del	ENSP00000432944.1:n.1192-7338_1192-7333del
ENST00000529563.5:n.168+7137_168+7142del
NM_001297764.1:c.1228-7338_1228-7333del	NP_001284693.1:n.1228-7338_1228-7333del
NM_005709.3:c.1285-7338_1285-7333del	NP_005700.2:n.1285-7338_1285-7333del
NM_153676.3:c.2013+38_2013+43del	NP_710142.1:n.2013+38_2013+43del
NR_123738.1:n.1320-7338_1320-7333del
XM_011519831.1:c.2037+38_2037+43del	XP_011518133.1:n.2037+38_2037+43del
XM_011519832.1:c.1437+2584_1437+2589del	XP_011518134.1:n.1437+2584_1437+2589del
XM_011519833.1:c.1334+6923_1334+6928del	XP_011518135.1:n.1334+6923_1334+6928del
XR_930841.1:n.1655+2584_1655+2589del
XR_930842.1:n.1596+2584_1596+2589del
XM_011519832.3:c.1437+2584_1437+2589del	XP_011518134.1:n.1437+2584_1437+2589del
XM_017017072.1:c.2037+38_2037+43del	XP_016872561.1:n.2037+38_2037+43del
XM_017017073.1:c.1980+38_1980+43del	XP_016872562.1:n.1980+38_1980+43del
XM_017017074.1:c.1555-89_1555-84del	XP_016872563.1:n.1555-89_1555-84del
XM_017017075.1:c.2013+38_2013+43del	XP_016872564.1:n.2013+38_2013+43del
XR_001747717.2:n.1443+6923_1443+6928del
NM_153676.4:c.2013+38_2013+43del MANE Select	NP_710142.1:n.2013+38_2013+43del
NM_001297764.2:c.1228-7338_1228-7333del	NP_001284693.1:n.1228-7338_1228-7333del
NM_005709.4:c.1285-7338_1285-7333del MANE Plus Clinical	NP_005700.2:n.1285-7338_1285-7333del
NR_123738.2:n.1320-7338_1320-7333del