Canonical Allele Identifier: CA2790593385

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509263_17509267del , CM000673.2:g.17509263_17509267del	GRCh38
NC_000011.9:g.17530810_17530814del , CM000673.1:g.17530810_17530814del	GRCh37
NC_000011.8:g.17487386_17487390del	NCBI36
NG_011883.1:g.40150_40154del
NG_011883.2:g.40150_40154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2013+89_2013+93del MANE Select	ENSP00000005226.7:n.2013+89_2013+93del
ENST00000318024.9:c.1285-7287_1285-7283del MANE Plus Clinical	ENSP00000317018.4:n.1285-7287_1285-7283del
ENST00000005226.11:c.2013+89_2013+93del	ENSP00000005226.7:n.2013+89_2013+93del
ENST00000318024.8:c.1285-7287_1285-7283del	ENSP00000317018.4:n.1285-7287_1285-7283del
ENST00000526313.5:c.1211-7287_1211-7283del	ENSP00000432236.1:n.1211-7287_1211-7283del
ENST00000527020.5:c.1228-7287_1228-7283del	ENSP00000436934.1:n.1228-7287_1228-7283del
ENST00000527720.5:c.1192-7287_1192-7283del	ENSP00000432944.1:n.1192-7287_1192-7283del
ENST00000529563.5:n.168+7188_168+7192del
NM_001297764.1:c.1228-7287_1228-7283del	NP_001284693.1:n.1228-7287_1228-7283del
NM_005709.3:c.1285-7287_1285-7283del	NP_005700.2:n.1285-7287_1285-7283del
NM_153676.3:c.2013+89_2013+93del	NP_710142.1:n.2013+89_2013+93del
NR_123738.1:n.1320-7287_1320-7283del
XM_011519831.1:c.2037+89_2037+93del	XP_011518133.1:n.2037+89_2037+93del
XM_011519832.1:c.1437+2635_1437+2639del	XP_011518134.1:n.1437+2635_1437+2639del
XM_011519833.1:c.1334+6974_1334+6978del	XP_011518135.1:n.1334+6974_1334+6978del
XR_930841.1:n.1655+2635_1655+2639del
XR_930842.1:n.1596+2635_1596+2639del
XM_011519832.3:c.1437+2635_1437+2639del	XP_011518134.1:n.1437+2635_1437+2639del
XM_017017072.1:c.2038-38_2038-34del	XP_016872561.1:n.2038-38_2038-34del
XM_017017073.1:c.1981-38_1981-34del	XP_016872562.1:n.1981-38_1981-34del
XM_017017074.1:c.1555-38_1555-34del	XP_016872563.1:n.1555-38_1555-34del
XM_017017075.1:c.2013+89_2013+93del	XP_016872564.1:n.2013+89_2013+93del
XR_001747717.2:n.1443+6974_1443+6978del
NM_153676.4:c.2013+89_2013+93del MANE Select	NP_710142.1:n.2013+89_2013+93del
NM_001297764.2:c.1228-7287_1228-7283del	NP_001284693.1:n.1228-7287_1228-7283del
NM_005709.4:c.1285-7287_1285-7283del MANE Plus Clinical	NP_005700.2:n.1285-7287_1285-7283del
NR_123738.2:n.1320-7287_1320-7283del