Canonical Allele Identifier: CA1955177163

Gene: USH1C

Linked Data

• dbSNP Id: rs1849777943
• gnomAD v4: 11-17509530-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509532_17509533del , CM000673.2:g.17509532_17509533del	GRCh38
NC_000011.9:g.17531079_17531080del , CM000673.1:g.17531079_17531080del	GRCh37
NC_000011.8:g.17487655_17487656del	NCBI36
NG_011883.1:g.39885_39886del
NG_011883.2:g.39885_39886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1837_1838del MANE Select	ENSP00000005226.7:p.Thr613ProfsTer?
ENST00000318024.9:c.1285-7552_1285-7551del MANE Plus Clinical	ENSP00000317018.4:n.1285-7552_1285-7551del
ENST00000005226.11:c.1837_1838del	ENSP00000005226.7:p.Thr613ProfsTer?
ENST00000318024.8:c.1285-7552_1285-7551del	ENSP00000317018.4:n.1285-7552_1285-7551del
ENST00000526313.5:c.1211-7552_1211-7551del	ENSP00000432236.1:n.1211-7552_1211-7551del
ENST00000527020.5:c.1228-7552_1228-7551del	ENSP00000436934.1:n.1228-7552_1228-7551del
ENST00000527720.5:c.1192-7552_1192-7551del	ENSP00000432944.1:n.1192-7552_1192-7551del
ENST00000529563.5:n.168+6923_168+6924del
NM_001297764.1:c.1228-7552_1228-7551del	NP_001284693.1:n.1228-7552_1228-7551del
NM_005709.3:c.1285-7552_1285-7551del	NP_005700.2:n.1285-7552_1285-7551del
NM_153676.3:c.1837_1838del	NP_710142.1:p.Thr613ProfsTer?
NR_123738.1:n.1320-7552_1320-7551del
XM_011519831.1:c.1861_1862del	XP_011518133.1:p.Thr621ProfsTer?
XM_011519832.1:c.1437+2370_1437+2371del	XP_011518134.1:n.1437+2370_1437+2371del
XM_011519833.1:c.1334+6709_1334+6710del	XP_011518135.1:n.1334+6709_1334+6710del
XR_930841.1:n.1655+2370_1655+2371del
XR_930842.1:n.1596+2370_1596+2371del
XM_011519832.3:c.1437+2370_1437+2371del	XP_011518134.1:n.1437+2370_1437+2371del
XM_017017072.1:c.1861_1862del	XP_016872561.1:p.Thr621ProfsTer?
XM_017017073.1:c.1804_1805del	XP_016872562.1:p.Thr602ProfsTer?
XM_017017074.1:c.1555-303_1555-302del	XP_016872563.1:n.1555-303_1555-302del
XM_017017075.1:c.1837_1838del	XP_016872564.1:p.Thr613ProfsTer?
XR_001747717.2:n.1443+6709_1443+6710del
NM_153676.4:c.1837_1838del MANE Select	NP_710142.1:p.Thr613ProfsTer?
NM_001297764.2:c.1228-7552_1228-7551del	NP_001284693.1:n.1228-7552_1228-7551del
NM_005709.4:c.1285-7552_1285-7551del MANE Plus Clinical	NP_005700.2:n.1285-7552_1285-7551del
NR_123738.2:n.1320-7552_1320-7551del