Canonical Allele Identifier: CA5904167

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2679428
• ClinVar RCV Id: RCV003464778
• dbSNP Id: rs748171099
• ExAC: 11:17519778 GC / G
• gnomAD v2: 11-17519778-GC-G
• gnomAD v3: 11-17498231-GC-G
• gnomAD v4: 11-17498231-GC-G
• MyVariant Identifiers: chr11:g.17519779del (hg19) ; chr11:g.17498232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498233del , CM000673.2:g.17498233del	GRCh38
NC_000011.9:g.17519780del , CM000673.1:g.17519780del	GRCh37
NC_000011.8:g.17476356del	NCBI36
NG_011883.1:g.51185del
NG_011883.2:g.51185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2420del MANE Select	ENSP00000005226.7:p.Gly807AlafsTer4
ENST00000318024.9:c.1520del MANE Plus Clinical	ENSP00000317018.4:p.Gly507AlafsTer4
ENST00000005226.11:c.2420del	ENSP00000005226.7:p.Gly807AlafsTer4
ENST00000318024.8:c.1520del	ENSP00000317018.4:p.Gly507AlafsTer4
ENST00000526313.5:c.*234del	ENSP00000432236.1:n.*234del
ENST00000527020.5:c.1463del	ENSP00000436934.1:p.Gly488AlafsTer4
ENST00000527720.5:c.1427del	ENSP00000432944.1:p.Gly476AlafsTer4
ENST00000529563.5:n.404del
NM_001297764.1:c.1463del	NP_001284693.1:p.Gly488AlafsTer4
NM_005709.3:c.1520del	NP_005700.2:p.Gly507AlafsTer4
NM_153676.3:c.2420del	NP_710142.1:p.Gly807AlafsTer4
NR_123738.1:n.1555del
XM_011519831.1:c.2444del	XP_011518133.1:p.Gly815AlafsTer4
XM_011519832.1:c.1673del	XP_011518134.1:p.Gly558AlafsTer4
XM_011519832.3:c.1673del	XP_011518134.1:p.Gly558AlafsTer4
XM_017017075.1:c.2420del	XP_016872564.1:p.Gly807AlafsTer4
XR_001747717.2:n.1679del
NM_153676.4:c.2420del MANE Select	NP_710142.1:p.Gly807AlafsTer4
NM_001297764.2:c.1463del	NP_001284693.1:p.Gly488AlafsTer4
NM_005709.4:c.1520del MANE Plus Clinical	NP_005700.2:p.Gly507AlafsTer4
NR_123738.2:n.1555del