Canonical Allele Identifier: CA2790592595

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501449_17501450insAC , CM000673.2:g.17501449_17501450insAC	GRCh38
NC_000011.9:g.17522996_17522997insAC , CM000673.1:g.17522996_17522997insAC	GRCh37
NC_000011.8:g.17479572_17479573insAC	NCBI36
NG_011883.1:g.47967_47968insGT
NG_011883.2:g.47967_47968insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2280+32_2280+33insGT MANE Select	ENSP00000005226.7:n.2280+32_2280+33insGT
ENST00000318024.9:c.1380+32_1380+33insGT MANE Plus Clinical	ENSP00000317018.4:n.1380+32_1380+33insGT
ENST00000005226.11:c.2280+32_2280+33insGT	ENSP00000005226.7:n.2280+32_2280+33insGT
ENST00000318024.8:c.1380+32_1380+33insGT	ENSP00000317018.4:n.1380+32_1380+33insGT
ENST00000526313.5:c.*94+32_*94+33insGT	ENSP00000432236.1:n.*94+32_*94+33insGT
ENST00000527020.5:c.1323+32_1323+33insGT	ENSP00000436934.1:n.1323+32_1323+33insGT
ENST00000527720.5:c.1287+32_1287+33insGT	ENSP00000432944.1:n.1287+32_1287+33insGT
ENST00000529563.5:n.264+32_264+33insGT
ENST00000534556.1:n.165+32_165+33insGT
NM_001297764.1:c.1323+32_1323+33insGT	NP_001284693.1:n.1323+32_1323+33insGT
NM_005709.3:c.1380+32_1380+33insGT	NP_005700.2:n.1380+32_1380+33insGT
NM_153676.3:c.2280+32_2280+33insGT	NP_710142.1:n.2280+32_2280+33insGT
NR_123738.1:n.1415+32_1415+33insGT
XM_011519831.1:c.2304+32_2304+33insGT	XP_011518133.1:n.2304+32_2304+33insGT
XM_011519832.1:c.1533+32_1533+33insGT	XP_011518134.1:n.1533+32_1533+33insGT
XM_011519833.1:c.1430+32_1430+33insGT	XP_011518135.1:n.1430+32_1430+33insGT
XR_930841.1:n.1751+32_1751+33insGT
XR_930842.1:n.1692+32_1692+33insGT
XM_011519832.3:c.1533+32_1533+33insGT	XP_011518134.1:n.1533+32_1533+33insGT
XM_017017075.1:c.2280+32_2280+33insGT	XP_016872564.1:n.2280+32_2280+33insGT
XR_001747717.2:n.1539+32_1539+33insGT
NM_153676.4:c.2280+32_2280+33insGT MANE Select	NP_710142.1:n.2280+32_2280+33insGT
NM_001297764.2:c.1323+32_1323+33insGT	NP_001284693.1:n.1323+32_1323+33insGT
NM_005709.4:c.1380+32_1380+33insGT MANE Plus Clinical	NP_005700.2:n.1380+32_1380+33insGT
NR_123738.2:n.1415+32_1415+33insGT