Canonical Allele Identifier: CA1955173411

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501444_17501445delinsAG , CM000673.2:g.17501444_17501445delinsAG	GRCh38
NC_000011.9:g.17522991_17522992delinsAG , CM000673.1:g.17522991_17522992delinsAG	GRCh37
NC_000011.8:g.17479567_17479568delinsAG	NCBI36
NG_011883.1:g.47972_47973delinsCT
NG_011883.2:g.47972_47973delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2280+37_2280+38delinsCT MANE Select	ENSP00000005226.7:n.2280+37_2280+38delinsCT
ENST00000318024.9:c.1380+37_1380+38delinsCT MANE Plus Clinical	ENSP00000317018.4:n.1380+37_1380+38delinsCT
ENST00000005226.11:c.2280+37_2280+38delinsCT	ENSP00000005226.7:n.2280+37_2280+38delinsCT
ENST00000318024.8:c.1380+37_1380+38delinsCT	ENSP00000317018.4:n.1380+37_1380+38delinsCT
ENST00000526313.5:c.*94+37_*94+38delinsCT	ENSP00000432236.1:n.*94+37_*94+38delinsCT
ENST00000527020.5:c.1323+37_1323+38delinsCT	ENSP00000436934.1:n.1323+37_1323+38delinsCT
ENST00000527720.5:c.1287+37_1287+38delinsCT	ENSP00000432944.1:n.1287+37_1287+38delinsCT
ENST00000529563.5:n.264+37_264+38delinsCT
ENST00000534556.1:n.165+37_165+38delinsCT
NM_001297764.1:c.1323+37_1323+38delinsCT	NP_001284693.1:n.1323+37_1323+38delinsCT
NM_005709.3:c.1380+37_1380+38delinsCT	NP_005700.2:n.1380+37_1380+38delinsCT
NM_153676.3:c.2280+37_2280+38delinsCT	NP_710142.1:n.2280+37_2280+38delinsCT
NR_123738.1:n.1415+37_1415+38delinsCT
XM_011519831.1:c.2304+37_2304+38delinsCT	XP_011518133.1:n.2304+37_2304+38delinsCT
XM_011519832.1:c.1533+37_1533+38delinsCT	XP_011518134.1:n.1533+37_1533+38delinsCT
XM_011519833.1:c.1430+37_1430+38delinsCT	XP_011518135.1:n.1430+37_1430+38delinsCT
XR_930841.1:n.1751+37_1751+38delinsCT
XR_930842.1:n.1692+37_1692+38delinsCT
XM_011519832.3:c.1533+37_1533+38delinsCT	XP_011518134.1:n.1533+37_1533+38delinsCT
XM_017017075.1:c.2280+37_2280+38delinsCT	XP_016872564.1:n.2280+37_2280+38delinsCT
XR_001747717.2:n.1539+37_1539+38delinsCT
NM_153676.4:c.2280+37_2280+38delinsCT MANE Select	NP_710142.1:n.2280+37_2280+38delinsCT
NM_001297764.2:c.1323+37_1323+38delinsCT	NP_001284693.1:n.1323+37_1323+38delinsCT
NM_005709.4:c.1380+37_1380+38delinsCT MANE Plus Clinical	NP_005700.2:n.1380+37_1380+38delinsCT
NR_123738.2:n.1415+37_1415+38delinsCT