Canonical Allele Identifier: CA658822053

Gene: USH1C

Linked Data

• ClinVar Variation Id: 558011
• ClinVar RCV Id: RCV000674222
• dbSNP Id: rs1554956821
• MyVariant Identifiers: chr11:g.17509359_17509363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509363_17509367del , CM000673.2:g.17509363_17509367del	GRCh38
NC_000011.9:g.17530910_17530914del , CM000673.1:g.17530910_17530914del	GRCh37
NC_000011.8:g.17487486_17487490del	NCBI36
NG_011883.1:g.40054_40058del
NG_011883.2:g.40054_40058del

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2006_2010del MANE Select	ENSP00000005226.7:p.Thr669LysfsTer?
ENST00000318024.9:c.1285-7383_1285-7379del MANE Plus Clinical	ENSP00000317018.4:n.1285-7383_1285-7379de...
ENST00000005226.11:c.2006_2010del	ENSP00000005226.7:p.Thr669LysfsTer?
ENST00000318024.8:c.1285-7383_1285-7379del	ENSP00000317018.4:n.1285-7383_1285-7379de...
ENST00000526313.5:c.1211-7383_1211-7379del	ENSP00000432236.1:n.1211-7383_1211-7379de...
ENST00000527020.5:c.1228-7383_1228-7379del	ENSP00000436934.1:n.1228-7383_1228-7379de...
ENST00000527720.5:c.1192-7383_1192-7379del	ENSP00000432944.1:n.1192-7383_1192-7379de...
ENST00000529563.5:n.168+7092_168+7096del
NM_001297764.1:c.1228-7383_1228-7379del	NP_001284693.1:n.1228-7383_1228-7379del
NM_005709.3:c.1285-7383_1285-7379del	NP_005700.2:n.1285-7383_1285-7379del
NM_153676.3:c.2006_2010del	NP_710142.1:p.Thr669LysfsTer?
NR_123738.1:n.1320-7383_1320-7379del
XM_011519831.1:c.2030_2034del	XP_011518133.1:p.Thr677LysfsTer?
XM_011519832.1:c.1437+2539_1437+2543del	XP_011518134.1:n.1437+2539_1437+2543del
XM_011519833.1:c.1334+6878_1334+6882del	XP_011518135.1:n.1334+6878_1334+6882del
XR_930841.1:n.1655+2539_1655+2543del
XR_930842.1:n.1596+2539_1596+2543del
XM_011519832.3:c.1437+2539_1437+2543del	XP_011518134.1:n.1437+2539_1437+2543del
XM_017017072.1:c.2030_2034del	XP_016872561.1:p.Thr677LysfsTer21
XM_017017073.1:c.1973_1977del	XP_016872562.1:p.Thr658LysfsTer21
XM_017017074.1:c.1555-134_1555-130del	XP_016872563.1:n.1555-134_1555-130del
XM_017017075.1:c.2006_2010del	XP_016872564.1:p.Thr669LysfsTer?
XR_001747717.2:n.1443+6878_1443+6882del
NM_153676.4:c.2006_2010del MANE Select	NP_710142.1:p.Thr669LysfsTer?
NM_001297764.2:c.1228-7383_1228-7379del	NP_001284693.1:n.1228-7383_1228-7379del
NM_005709.4:c.1285-7383_1285-7379del MANE Plus Clinical	NP_005700.2:n.1285-7383_1285-7379del
NR_123738.2:n.1320-7383_1320-7379del