Canonical Allele Identifier: CA5904246

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1170941
• ClinVar RCV Id: RCV001523755
• dbSNP Id: rs569102513
• ExAC: 11:17523009 G / GC
• gnomAD v2: 11-17523009-G-GC
• gnomAD v3: 11-17501462-G-GC
• gnomAD v4: 11-17501462-G-GC
• MyVariant Identifiers: chr11:g.17523009_17523010insC (hg19) ; chr11:g.17501462_17501463insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501464dup , CM000673.2:g.17501464dup	GRCh38
NC_000011.9:g.17523011dup , CM000673.1:g.17523011dup	GRCh37
NC_000011.8:g.17479587dup	NCBI36
NG_011883.1:g.47954dup
NG_011883.2:g.47954dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2280+19dup MANE Select	ENSP00000005226.7:n.2280+19dup
ENST00000318024.9:c.1380+19dup MANE Plus Clinical	ENSP00000317018.4:n.1380+19dup
ENST00000005226.11:c.2280+19dup	ENSP00000005226.7:n.2280+19dup
ENST00000318024.8:c.1380+19dup	ENSP00000317018.4:n.1380+19dup
ENST00000526313.5:c.*94+19dup	ENSP00000432236.1:n.*94+19dup
ENST00000527020.5:c.1323+19dup	ENSP00000436934.1:n.1323+19dup
ENST00000527720.5:c.1287+19dup	ENSP00000432944.1:n.1287+19dup
ENST00000529563.5:n.264+19dup
ENST00000534556.1:n.165+19dup
NM_001297764.1:c.1323+19dup	NP_001284693.1:n.1323+19dup
NM_005709.3:c.1380+19dup	NP_005700.2:n.1380+19dup
NM_153676.3:c.2280+19dup	NP_710142.1:n.2280+19dup
NR_123738.1:n.1415+19dup
XM_011519831.1:c.2304+19dup	XP_011518133.1:n.2304+19dup
XM_011519832.1:c.1533+19dup	XP_011518134.1:n.1533+19dup
XM_011519833.1:c.1430+19dup	XP_011518135.1:n.1430+19dup
XR_930841.1:n.1751+19dup
XR_930842.1:n.1692+19dup
XM_011519832.3:c.1533+19dup	XP_011518134.1:n.1533+19dup
XM_017017075.1:c.2280+19dup	XP_016872564.1:n.2280+19dup
XR_001747717.2:n.1539+19dup
NM_153676.4:c.2280+19dup MANE Select	NP_710142.1:n.2280+19dup
NM_001297764.2:c.1323+19dup	NP_001284693.1:n.1323+19dup
NM_005709.4:c.1380+19dup MANE Plus Clinical	NP_005700.2:n.1380+19dup
NR_123738.2:n.1415+19dup