Canonical Allele Identifier: CA2580082886

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2091203
• ClinVar RCV Id: RCV003013492

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498285_17498286del , CM000673.2:g.17498285_17498286del	GRCh38
NC_000011.9:g.17519832_17519833del , CM000673.1:g.17519832_17519833del	GRCh37
NC_000011.8:g.17476408_17476409del	NCBI36
NG_011883.1:g.51132_51133del
NG_011883.2:g.51132_51133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2381-14_2381-13del MANE Select	ENSP00000005226.7:n.2381-14_2381-13del
ENST00000318024.9:c.1481-14_1481-13del MANE Plus Clinical	ENSP00000317018.4:n.1481-14_1481-13del
ENST00000005226.11:c.2381-14_2381-13del	ENSP00000005226.7:n.2381-14_2381-13del
ENST00000318024.8:c.1481-14_1481-13del	ENSP00000317018.4:n.1481-14_1481-13del
ENST00000526313.5:c.*195-14_*195-13del	ENSP00000432236.1:n.*195-14_*195-13del
ENST00000527020.5:c.1424-14_1424-13del	ENSP00000436934.1:n.1424-14_1424-13del
ENST00000527720.5:c.1388-14_1388-13del	ENSP00000432944.1:n.1388-14_1388-13del
ENST00000529563.5:n.365-14_365-13del
NM_001297764.1:c.1424-14_1424-13del	NP_001284693.1:n.1424-14_1424-13del
NM_005709.3:c.1481-14_1481-13del	NP_005700.2:n.1481-14_1481-13del
NM_153676.3:c.2381-14_2381-13del	NP_710142.1:n.2381-14_2381-13del
NR_123738.1:n.1516-14_1516-13del
XM_011519831.1:c.2405-14_2405-13del	XP_011518133.1:n.2405-14_2405-13del
XM_011519832.1:c.1634-14_1634-13del	XP_011518134.1:n.1634-14_1634-13del
XM_011519832.3:c.1634-14_1634-13del	XP_011518134.1:n.1634-14_1634-13del
XM_017017075.1:c.2381-14_2381-13del	XP_016872564.1:n.2381-14_2381-13del
XR_001747717.2:n.1640-14_1640-13del
NM_153676.4:c.2381-14_2381-13del MANE Select	NP_710142.1:n.2381-14_2381-13del
NM_001297764.2:c.1424-14_1424-13del	NP_001284693.1:n.1424-14_1424-13del
NM_005709.4:c.1481-14_1481-13del MANE Plus Clinical	NP_005700.2:n.1481-14_1481-13del
NR_123738.2:n.1516-14_1516-13del