Canonical Allele Identifier: CA2574769534

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509293_17509294del , CM000673.2:g.17509293_17509294del	GRCh38
NC_000011.9:g.17530840_17530841del , CM000673.1:g.17530840_17530841del	GRCh37
NC_000011.8:g.17487416_17487417del	NCBI36
NG_011883.1:g.40124_40125del
NG_011883.2:g.40124_40125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2013+63_2013+64del MANE Select	ENSP00000005226.7:n.2013+63_2013+64del
ENST00000318024.9:c.1285-7313_1285-7312del MANE Plus Clinical	ENSP00000317018.4:n.1285-7313_1285-7312del
ENST00000005226.11:c.2013+63_2013+64del	ENSP00000005226.7:n.2013+63_2013+64del
ENST00000318024.8:c.1285-7313_1285-7312del	ENSP00000317018.4:n.1285-7313_1285-7312del
ENST00000526313.5:c.1211-7313_1211-7312del	ENSP00000432236.1:n.1211-7313_1211-7312del
ENST00000527020.5:c.1228-7313_1228-7312del	ENSP00000436934.1:n.1228-7313_1228-7312del
ENST00000527720.5:c.1192-7313_1192-7312del	ENSP00000432944.1:n.1192-7313_1192-7312del
ENST00000529563.5:n.168+7162_168+7163del
NM_001297764.1:c.1228-7313_1228-7312del	NP_001284693.1:n.1228-7313_1228-7312del
NM_005709.3:c.1285-7313_1285-7312del	NP_005700.2:n.1285-7313_1285-7312del
NM_153676.3:c.2013+63_2013+64del	NP_710142.1:n.2013+63_2013+64del
NR_123738.1:n.1320-7313_1320-7312del
XM_011519831.1:c.2037+63_2037+64del	XP_011518133.1:n.2037+63_2037+64del
XM_011519832.1:c.1437+2609_1437+2610del	XP_011518134.1:n.1437+2609_1437+2610del
XM_011519833.1:c.1334+6948_1334+6949del	XP_011518135.1:n.1334+6948_1334+6949del
XR_930841.1:n.1655+2609_1655+2610del
XR_930842.1:n.1596+2609_1596+2610del
XM_011519832.3:c.1437+2609_1437+2610del	XP_011518134.1:n.1437+2609_1437+2610del
XM_017017072.1:c.2038-64_2038-63del	XP_016872561.1:n.2038-64_2038-63del
XM_017017073.1:c.1981-64_1981-63del	XP_016872562.1:n.1981-64_1981-63del
XM_017017074.1:c.1555-64_1555-63del	XP_016872563.1:n.1555-64_1555-63del
XM_017017075.1:c.2013+63_2013+64del	XP_016872564.1:n.2013+63_2013+64del
XR_001747717.2:n.1443+6948_1443+6949del
NM_153676.4:c.2013+63_2013+64del MANE Select	NP_710142.1:n.2013+63_2013+64del
NM_001297764.2:c.1228-7313_1228-7312del	NP_001284693.1:n.1228-7313_1228-7312del
NM_005709.4:c.1285-7313_1285-7312del MANE Plus Clinical	NP_005700.2:n.1285-7313_1285-7312del
NR_123738.2:n.1320-7313_1320-7312del