Canonical Allele Identifier: CA2695213326

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498226del , CM000673.2:g.17498226del	GRCh38
NC_000011.9:g.17519773del , CM000673.1:g.17519773del	GRCh37
NC_000011.8:g.17476349del	NCBI36
NG_011883.1:g.51192del
NG_011883.2:g.51192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2427del MANE Select	ENSP00000005226.7:p.Ile809MetfsTer2
ENST00000318024.9:c.1527del MANE Plus Clinical	ENSP00000317018.4:p.Ile509MetfsTer2
ENST00000005226.11:c.2427del	ENSP00000005226.7:p.Ile809MetfsTer2
ENST00000318024.8:c.1527del	ENSP00000317018.4:p.Ile509MetfsTer2
ENST00000526313.5:c.*241del	ENSP00000432236.1:n.*241del
ENST00000527020.5:c.1470del	ENSP00000436934.1:p.Ile490MetfsTer2
ENST00000527720.5:c.1434del	ENSP00000432944.1:p.Ile478MetfsTer2
ENST00000529563.5:n.411del
NM_001297764.1:c.1470del	NP_001284693.1:p.Ile490MetfsTer2
NM_005709.3:c.1527del	NP_005700.2:p.Ile509MetfsTer2
NM_153676.3:c.2427del	NP_710142.1:p.Ile809MetfsTer2
NR_123738.1:n.1562del
XM_011519831.1:c.2451del	XP_011518133.1:p.Ile817MetfsTer2
XM_011519832.1:c.1680del	XP_011518134.1:p.Ile560MetfsTer2
XM_011519832.3:c.1680del	XP_011518134.1:p.Ile560MetfsTer2
XM_017017075.1:c.2427del	XP_016872564.1:p.Ile809MetfsTer2
XR_001747717.2:n.1686del
NM_153676.4:c.2427del MANE Select	NP_710142.1:p.Ile809MetfsTer2
NM_001297764.2:c.1470del	NP_001284693.1:p.Ile490MetfsTer2
NM_005709.4:c.1527del MANE Plus Clinical	NP_005700.2:p.Ile509MetfsTer2
NR_123738.2:n.1562del