Canonical Allele Identifier: CA10637957

Gene: USH1C

Linked Data

• ClinVar Variation Id: 303793
• ClinVar RCV Id: RCV000292469 ; RCV000347392
• dbSNP Id: rs10626485
• gnomAD v2: 11-17515459-C-CTGTT
• gnomAD v3: 11-17493912-C-CTGTT
• gnomAD v4: 11-17493912-C-CTGTT
• COSMIC: COSN20108015 ; COSN20108016 ; COSN20108017 ; COSN20108018 ; COSN20108019 ; COSN20108020
• MyVariant Identifiers: chr11:g.17515460_17515461insGTTT (hg19) ; chr11:g.17515459_17515460insTGTT (hg19) ; chr11:g.17493913_17493914insGTTT (hg38) ; chr11:g.17493912_17493913insTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17493913_17493914insGTTT , CM000673.2:g.17493913_17493914insGTTT	GRCh38
NC_000011.9:g.17515460_17515461insGTTT , CM000673.1:g.17515460_17515461insGTTT	GRCh37
NC_000011.8:g.17472036_17472037insGTTT	NCBI36
NG_011883.1:g.55504_55505insAACA
NG_011883.2:g.55504_55505insAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.*419_*420insAACA MANE Select	ENSP00000005226.7:n.*419_*420insAACA
ENST00000318024.9:c.*451_*452insAACA MANE Plus Clinical	ENSP00000317018.4:n.*451_*452insAACA
ENST00000318024.8:c.*451_*452insAACA	ENSP00000317018.4:n.*451_*452insAACA
ENST00000526313.5:c.*824_*825insAACA	ENSP00000432236.1:n.*824_*825insAACA
ENST00000527020.5:c.*451_*452insAACA	ENSP00000436934.1:n.*451_*452insAACA
ENST00000527720.5:c.*451_*452insAACA	ENSP00000432944.1:n.*451_*452insAACA
ENST00000624811.1:n.1181_1182insAACA
NM_001297764.1:c.*451_*452insAACA	NP_001284693.1:n.*451_*452insAACA
NM_005709.3:c.*451_*452insAACA	NP_005700.2:n.*451_*452insAACA
NM_153676.3:c.*419_*420insAACA	NP_710142.1:n.*419_*420insAACA
NR_123738.1:n.2145_2146insAACA
XM_011519831.1:c.*451_*452insAACA	XP_011518133.1:n.*451_*452insAACA
XM_011519832.1:c.*451_*452insAACA	XP_011518134.1:n.*451_*452insAACA
XM_011519832.3:c.*451_*452insAACA	XP_011518134.1:n.*451_*452insAACA
XR_001747717.2:n.2269_2270insAACA
NM_153676.4:c.*419_*420insAACA MANE Select	NP_710142.1:n.*419_*420insAACA
NM_001297764.2:c.*451_*452insAACA	NP_001284693.1:n.*451_*452insAACA
NM_005709.4:c.*451_*452insAACA MANE Plus Clinical	NP_005700.2:n.*451_*452insAACA
NR_123738.2:n.2145_2146insAACA