Canonical Allele Identifier: CA5904248

Gene: USH1C

Linked Data

• ClinVar Variation Id: 505188
• ClinVar RCV Id: RCV000603989 ; RCV001835876 ; RCV002529320
• dbSNP Id: rs776356060
• ExAC: 11:17523022 CA / C
• gnomAD v2: 11-17523022-CA-C
• gnomAD v3: 11-17501475-CA-C
• gnomAD v4: 11-17501475-CA-C
• MyVariant Identifiers: chr11:g.17523023del (hg19) ; chr11:g.17501476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501476del , CM000673.2:g.17501476del	GRCh38
NC_000011.9:g.17523023del , CM000673.1:g.17523023del	GRCh37
NC_000011.8:g.17479599del	NCBI36
NG_011883.1:g.47941del
NG_011883.2:g.47941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2280+6del MANE Select	ENSP00000005226.7:n.2280+6del
ENST00000318024.9:c.1380+6del MANE Plus Clinical	ENSP00000317018.4:n.1380+6del
ENST00000005226.11:c.2280+6del	ENSP00000005226.7:n.2280+6del
ENST00000318024.8:c.1380+6del	ENSP00000317018.4:n.1380+6del
ENST00000526313.5:c.*94+6del	ENSP00000432236.1:n.*94+6del
ENST00000527020.5:c.1323+6del	ENSP00000436934.1:n.1323+6del
ENST00000527720.5:c.1287+6del	ENSP00000432944.1:n.1287+6del
ENST00000529563.5:n.264+6del
ENST00000534556.1:n.165+6del
NM_001297764.1:c.1323+6del	NP_001284693.1:n.1323+6del
NM_005709.3:c.1380+6del	NP_005700.2:n.1380+6del
NM_153676.3:c.2280+6del	NP_710142.1:n.2280+6del
NR_123738.1:n.1415+6del
XM_011519831.1:c.2304+6del	XP_011518133.1:n.2304+6del
XM_011519832.1:c.1533+6del	XP_011518134.1:n.1533+6del
XM_011519833.1:c.1430+6del	XP_011518135.1:n.1430+6del
XR_930841.1:n.1751+6del
XR_930842.1:n.1692+6del
XM_011519832.3:c.1533+6del	XP_011518134.1:n.1533+6del
XM_017017075.1:c.2280+6del	XP_016872564.1:n.2280+6del
XR_001747717.2:n.1539+6del
NM_153676.4:c.2280+6del MANE Select	NP_710142.1:n.2280+6del
NM_001297764.2:c.1323+6del	NP_001284693.1:n.1323+6del
NM_005709.4:c.1380+6del MANE Plus Clinical	NP_005700.2:n.1380+6del
NR_123738.2:n.1415+6del