Canonical Allele Identifier: CA916083238

Gene: USH1C

Linked Data

• ClinVar Variation Id: 866066
• ClinVar RCV Id: RCV001073795 ; RCV001237148
• dbSNP Id: rs1850741468
• gnomAD v4: 11-17527226-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527228_17527229del , CM000673.2:g.17527228_17527229del	GRCh38
NC_000011.9:g.17548775_17548776del , CM000673.1:g.17548775_17548776del	GRCh37
NC_000011.8:g.17505351_17505352del	NCBI36
NG_011883.1:g.22189_22190del
NG_011883.2:g.22189_22190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.491_492del MANE Select	ENSP00000005226.7:p.Val164GlufsTer13
ENST00000318024.9:c.491_492del MANE Plus Clinical	ENSP00000317018.4:p.Val164GlufsTer13
ENST00000005226.11:c.491_492del	ENSP00000005226.7:p.Val164GlufsTer13
ENST00000318024.8:c.491_492del	ENSP00000317018.4:p.Val164GlufsTer13
ENST00000526181.1:c.524_525del	ENSP00000437128.1:p.Val175GlufsTer13
ENST00000526313.5:c.491_492del	ENSP00000432236.1:p.Val164GlufsTer13
ENST00000527020.5:c.491_492del	ENSP00000436934.1:p.Val164GlufsTer13
ENST00000527720.5:c.398_399del	ENSP00000432944.1:p.Val133GlufsTer13
NM_001297764.1:c.491_492del	NP_001284693.1:p.Val164GlufsTer13
NM_005709.3:c.491_492del	NP_005700.2:p.Val164GlufsTer13
NM_153676.3:c.491_492del	NP_710142.1:p.Val164GlufsTer13
NR_123738.1:n.600_601del
XM_011519831.1:c.491_492del	XP_011518133.1:p.Val164GlufsTer13
XM_011519832.1:c.491_492del	XP_011518134.1:p.Val164GlufsTer13
XM_011519833.1:c.491_492del	XP_011518135.1:p.Val164GlufsTer13
XM_011519834.1:c.491_492del	XP_011518136.1:p.Val164GlufsTer13
XR_930841.1:n.600_601del
XR_930842.1:n.600_601del
XM_011519832.3:c.491_492del	XP_011518134.1:p.Val164GlufsTer13
XM_011519834.2:c.491_492del	XP_011518136.1:p.Val164GlufsTer13
XM_017017072.1:c.491_492del	XP_016872561.1:p.Val164GlufsTer13
XM_017017073.1:c.491_492del	XP_016872562.1:p.Val164GlufsTer13
XM_017017074.1:c.491_492del	XP_016872563.1:p.Val164GlufsTer13
XM_017017075.1:c.491_492del	XP_016872564.1:p.Val164GlufsTer13
XR_001747717.2:n.600_601del
NM_153676.4:c.491_492del MANE Select	NP_710142.1:p.Val164GlufsTer13
NM_001297764.2:c.491_492del	NP_001284693.1:p.Val164GlufsTer13
NM_005709.4:c.491_492del MANE Plus Clinical	NP_005700.2:p.Val164GlufsTer13
NR_123738.2:n.600_601del