Canonical Allele Identifier: CA1955173378

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501383_17501394delinsCACCCAGGAGTG , CM000673.2:g.17501383_17501394delinsCACCCAGGAGTG	GRCh38
NC_000011.9:g.17522930_17522941delinsCACCCAGGAGTG , CM000673.1:g.17522930_17522941delinsCACCCAGGAGTG	GRCh37
NC_000011.8:g.17479506_17479517delinsCACCCAGGAGTG	NCBI36
NG_011883.1:g.48023_48034delinsCACTCCTGGGTG
NG_011883.2:g.48023_48034delinsCACTCCTGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2280+88_2280+99delinsCACTCCTGGGTG MANE Select	ENSP00000005226.7:n.2280+88_2280+99delinsCACTCCTGGGTG
ENST00000318024.9:c.1380+88_1380+99delinsCACTCCTGGGTG MANE Plus Clinical	ENSP00000317018.4:n.1380+88_1380+99delinsCACTCCTGGGTG
ENST00000005226.11:c.2280+88_2280+99delinsCACTCCTGGGTG	ENSP00000005226.7:n.2280+88_2280+99delinsCACTCCTGGGTG
ENST00000318024.8:c.1380+88_1380+99delinsCACTCCTGGGTG	ENSP00000317018.4:n.1380+88_1380+99delinsCACTCCTGGGTG
ENST00000526313.5:c.*94+88_*94+99delinsCACTCCTGGGTG	ENSP00000432236.1:n.*94+88_*94+99delinsCACTCCTGGGTG
ENST00000527020.5:c.1323+88_1323+99delinsCACTCCTGGGTG	ENSP00000436934.1:n.1323+88_1323+99delinsCACTCCTGGGTG
ENST00000527720.5:c.1287+88_1287+99delinsCACTCCTGGGTG	ENSP00000432944.1:n.1287+88_1287+99delinsCACTCCTGGGTG
ENST00000529563.5:n.264+88_264+99delinsCACTCCTGGGTG
ENST00000534556.1:n.165+88_165+99delinsCACTCCTGGGTG
NM_001297764.1:c.1323+88_1323+99delinsCACTCCTGGGTG	NP_001284693.1:n.1323+88_1323+99delinsCACTCCTGGGTG
NM_005709.3:c.1380+88_1380+99delinsCACTCCTGGGTG	NP_005700.2:n.1380+88_1380+99delinsCACTCCTGGGTG
NM_153676.3:c.2280+88_2280+99delinsCACTCCTGGGTG	NP_710142.1:n.2280+88_2280+99delinsCACTCCTGGGTG
NR_123738.1:n.1415+88_1415+99delinsCACTCCTGGGTG
XM_011519831.1:c.2304+88_2304+99delinsCACTCCTGGGTG	XP_011518133.1:n.2304+88_2304+99delinsCACTCCTGGGTG
XM_011519832.1:c.1533+88_1533+99delinsCACTCCTGGGTG	XP_011518134.1:n.1533+88_1533+99delinsCACTCCTGGGTG
XM_011519833.1:c.1430+88_1430+99delinsCACTCCTGGGTG	XP_011518135.1:n.1430+88_1430+99delinsCACTCCTGGGTG
XR_930841.1:n.1751+88_1751+99delinsCACTCCTGGGTG
XR_930842.1:n.1692+88_1692+99delinsCACTCCTGGGTG
XM_011519832.3:c.1533+88_1533+99delinsCACTCCTGGGTG	XP_011518134.1:n.1533+88_1533+99delinsCACTCCTGGGTG
XM_017017075.1:c.2280+88_2280+99delinsCACTCCTGGGTG	XP_016872564.1:n.2280+88_2280+99delinsCACTCCTGGGTG
XR_001747717.2:n.1539+88_1539+99delinsCACTCCTGGGTG
NM_153676.4:c.2280+88_2280+99delinsCACTCCTGGGTG MANE Select	NP_710142.1:n.2280+88_2280+99delinsCACTCCTGGGTG
NM_001297764.2:c.1323+88_1323+99delinsCACTCCTGGGTG	NP_001284693.1:n.1323+88_1323+99delinsCACTCCTGGGTG
NM_005709.4:c.1380+88_1380+99delinsCACTCCTGGGTG MANE Plus Clinical	NP_005700.2:n.1380+88_1380+99delinsCACTCCTGGGTG
NR_123738.2:n.1415+88_1415+99delinsCACTCCTGGGTG