Canonical Allele Identifier: CA340348

Gene: USH1C

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17531414dup , CM000673.2:g.17531414dup	GRCh38
NC_000011.9:g.17552961dup , CM000673.1:g.17552961dup	GRCh37
NC_000011.8:g.17509537dup	NCBI36
NG_011883.1:g.18008dup
NG_011883.2:g.18008dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.238dup MANE Select	ENSP00000005226.7:p.Arg80ProfsTer?
ENST00000318024.9:c.238dup MANE Plus Clinical	ENSP00000317018.4:p.Arg80ProfsTer?
ENST00000005226.11:c.238dup	ENSP00000005226.7:p.Arg80ProfsTer?
ENST00000318024.8:c.238dup	ENSP00000317018.4:p.Arg80ProfsTer?
ENST00000526181.1:c.271dup	ENSP00000437128.1:p.Arg91ProfsTer?
ENST00000526313.5:c.238dup	ENSP00000432236.1:p.Arg80ProfsTer?
ENST00000527020.5:c.238dup	ENSP00000436934.1:p.Arg80ProfsTer?
ENST00000527720.5:c.145dup	ENSP00000432944.1:p.Arg49ProfsTer?
NM_001297764.1:c.238dup	NP_001284693.1:p.Arg80ProfsTer?
NM_005709.3:c.238dup	NP_005700.2:p.Arg80ProfsTer?
NM_153676.3:c.238dup	NP_710142.1:p.Arg80ProfsTer?
NR_123738.1:n.347dup
XM_011519831.1:c.238dup	XP_011518133.1:p.Arg80ProfsTer?
XM_011519832.1:c.238dup	XP_011518134.1:p.Arg80ProfsTer?
XM_011519833.1:c.238dup	XP_011518135.1:p.Arg80ProfsTer?
XM_011519834.1:c.238dup	XP_011518136.1:p.Arg80ProfsTer?
XR_930841.1:n.347dup
XR_930842.1:n.347dup
XM_011519832.3:c.238dup	XP_011518134.1:p.Arg80ProfsTer?
XM_011519834.2:c.238dup	XP_011518136.1:p.Arg80ProfsTer?
XM_017017072.1:c.238dup	XP_016872561.1:p.Arg80ProfsTer?
XM_017017073.1:c.238dup	XP_016872562.1:p.Arg80ProfsTer?
XM_017017074.1:c.238dup	XP_016872563.1:p.Arg80ProfsTer?
XM_017017075.1:c.238dup	XP_016872564.1:p.Arg80ProfsTer?
XR_001747717.2:n.347dup
NM_153676.4:c.238dup MANE Select	NP_710142.1:p.Arg80ProfsTer?
NM_001297764.2:c.238dup	NP_001284693.1:p.Arg80ProfsTer?
NM_005709.4:c.238dup MANE Plus Clinical	NP_005700.2:p.Arg80ProfsTer?
NR_123738.2:n.347dup