Canonical Allele Identifier: CA2612674082

Gene: USH1C

Linked Data

• gnomAD v4: 11-17501439-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501444_17501445del , CM000673.2:g.17501444_17501445del	GRCh38
NC_000011.9:g.17522991_17522992del , CM000673.1:g.17522991_17522992del	GRCh37
NC_000011.8:g.17479567_17479568del	NCBI36
NG_011883.1:g.47976_47977del
NG_011883.2:g.47976_47977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2280+41_2280+42del MANE Select	ENSP00000005226.7:n.2280+41_2280+42del
ENST00000318024.9:c.1380+41_1380+42del MANE Plus Clinical	ENSP00000317018.4:n.1380+41_1380+42del
ENST00000005226.11:c.2280+41_2280+42del	ENSP00000005226.7:n.2280+41_2280+42del
ENST00000318024.8:c.1380+41_1380+42del	ENSP00000317018.4:n.1380+41_1380+42del
ENST00000526313.5:c.*94+41_*94+42del	ENSP00000432236.1:n.*94+41_*94+42del
ENST00000527020.5:c.1323+41_1323+42del	ENSP00000436934.1:n.1323+41_1323+42del
ENST00000527720.5:c.1287+41_1287+42del	ENSP00000432944.1:n.1287+41_1287+42del
ENST00000529563.5:n.264+41_264+42del
ENST00000534556.1:n.165+41_165+42del
NM_001297764.1:c.1323+41_1323+42del	NP_001284693.1:n.1323+41_1323+42del
NM_005709.3:c.1380+41_1380+42del	NP_005700.2:n.1380+41_1380+42del
NM_153676.3:c.2280+41_2280+42del	NP_710142.1:n.2280+41_2280+42del
NR_123738.1:n.1415+41_1415+42del
XM_011519831.1:c.2304+41_2304+42del	XP_011518133.1:n.2304+41_2304+42del
XM_011519832.1:c.1533+41_1533+42del	XP_011518134.1:n.1533+41_1533+42del
XM_011519833.1:c.1430+41_1430+42del	XP_011518135.1:n.1430+41_1430+42del
XR_930841.1:n.1751+41_1751+42del
XR_930842.1:n.1692+41_1692+42del
XM_011519832.3:c.1533+41_1533+42del	XP_011518134.1:n.1533+41_1533+42del
XM_017017075.1:c.2280+41_2280+42del	XP_016872564.1:n.2280+41_2280+42del
XR_001747717.2:n.1539+41_1539+42del
NM_153676.4:c.2280+41_2280+42del MANE Select	NP_710142.1:n.2280+41_2280+42del
NM_001297764.2:c.1323+41_1323+42del	NP_001284693.1:n.1323+41_1323+42del
NM_005709.4:c.1380+41_1380+42del MANE Plus Clinical	NP_005700.2:n.1380+41_1380+42del
NR_123738.2:n.1415+41_1415+42del