Canonical Allele Identifier: CA2612677328

Gene: USH1C

Linked Data

• gnomAD v4: 11-17509528-TGGGTGGGAACGGATGGCGGGGGAGGGATGGGAATGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509535_17509571del , CM000673.2:g.17509535_17509571del	GRCh38
NC_000011.9:g.17531082_17531118del , CM000673.1:g.17531082_17531118del	GRCh37
NC_000011.8:g.17487658_17487694del	NCBI36
NG_011883.1:g.39852_39888del
NG_011883.2:g.39852_39888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1804_1840del MANE Select	ENSP00000005226.7:p.Pro602LysfsTer17
ENST00000318024.9:c.1285-7585_1285-7549del MANE Plus Clinical	ENSP00000317018.4:n.1285-7585_1285-7549del
ENST00000005226.11:c.1804_1840del	ENSP00000005226.7:p.Pro602LysfsTer17
ENST00000318024.8:c.1285-7585_1285-7549del	ENSP00000317018.4:n.1285-7585_1285-7549del
ENST00000526313.5:c.1211-7585_1211-7549del	ENSP00000432236.1:n.1211-7585_1211-7549del
ENST00000527020.5:c.1228-7585_1228-7549del	ENSP00000436934.1:n.1228-7585_1228-7549del
ENST00000527720.5:c.1192-7585_1192-7549del	ENSP00000432944.1:n.1192-7585_1192-7549del
ENST00000529563.5:n.168+6890_168+6926del
NM_001297764.1:c.1228-7585_1228-7549del	NP_001284693.1:n.1228-7585_1228-7549del
NM_005709.3:c.1285-7585_1285-7549del	NP_005700.2:n.1285-7585_1285-7549del
NM_153676.3:c.1804_1840del	NP_710142.1:p.Pro602LysfsTer17
NR_123738.1:n.1320-7585_1320-7549del
XM_011519831.1:c.1828_1864del	XP_011518133.1:p.Pro610LysfsTer17
XM_011519832.1:c.1437+2337_1437+2373del	XP_011518134.1:n.1437+2337_1437+2373del
XM_011519833.1:c.1334+6676_1334+6712del	XP_011518135.1:n.1334+6676_1334+6712del
XR_930841.1:n.1655+2337_1655+2373del
XR_930842.1:n.1596+2337_1596+2373del
XM_011519832.3:c.1437+2337_1437+2373del	XP_011518134.1:n.1437+2337_1437+2373del
XM_017017072.1:c.1828_1864del	XP_016872561.1:p.Pro610LysfsTer17
XM_017017073.1:c.1771_1807del	XP_016872562.1:p.Pro591LysfsTer17
XM_017017074.1:c.1555-336_1555-300del	XP_016872563.1:n.1555-336_1555-300del
XM_017017075.1:c.1804_1840del	XP_016872564.1:p.Pro602LysfsTer17
XR_001747717.2:n.1443+6676_1443+6712del
NM_153676.4:c.1804_1840del MANE Select	NP_710142.1:p.Pro602LysfsTer17
NM_001297764.2:c.1228-7585_1228-7549del	NP_001284693.1:n.1228-7585_1228-7549del
NM_005709.4:c.1285-7585_1285-7549del MANE Plus Clinical	NP_005700.2:n.1285-7585_1285-7549del
NR_123738.2:n.1320-7585_1320-7549del