Canonical Allele Identifier: CA935537111

Gene: USH1C

Linked Data

• gnomAD v3: 11-17509552-G-GGC
• gnomAD v4: 11-17509552-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509553_17509554insCG , CM000673.2:g.17509553_17509554insCG	GRCh38
NC_000011.9:g.17531100_17531101insCG , CM000673.1:g.17531100_17531101insCG	GRCh37
NC_000011.8:g.17487676_17487677insCG	NCBI36
NG_011883.1:g.39864_39865insGC
NG_011883.2:g.39864_39865insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1816_1817insGC MANE Select	ENSP00000005226.7:p.Pro606ArgfsTer26
ENST00000318024.9:c.1285-7573_1285-7572insGC MANE Plus Clinical	ENSP00000317018.4:n.1285-7573_1285-7572insGC
ENST00000005226.11:c.1816_1817insGC	ENSP00000005226.7:p.Pro606ArgfsTer26
ENST00000318024.8:c.1285-7573_1285-7572insGC	ENSP00000317018.4:n.1285-7573_1285-7572insGC
ENST00000526313.5:c.1211-7573_1211-7572insGC	ENSP00000432236.1:n.1211-7573_1211-7572insGC
ENST00000527020.5:c.1228-7573_1228-7572insGC	ENSP00000436934.1:n.1228-7573_1228-7572insGC
ENST00000527720.5:c.1192-7573_1192-7572insGC	ENSP00000432944.1:n.1192-7573_1192-7572insGC
ENST00000529563.5:n.168+6902_168+6903insGC
NM_001297764.1:c.1228-7573_1228-7572insGC	NP_001284693.1:n.1228-7573_1228-7572insGC
NM_005709.3:c.1285-7573_1285-7572insGC	NP_005700.2:n.1285-7573_1285-7572insGC
NM_153676.3:c.1816_1817insGC	NP_710142.1:p.Pro606ArgfsTer26
NR_123738.1:n.1320-7573_1320-7572insGC
XM_011519831.1:c.1840_1841insGC	XP_011518133.1:p.Pro614ArgfsTer26
XM_011519832.1:c.1437+2349_1437+2350insGC	XP_011518134.1:n.1437+2349_1437+2350insGC
XM_011519833.1:c.1334+6688_1334+6689insGC	XP_011518135.1:n.1334+6688_1334+6689insGC
XR_930841.1:n.1655+2349_1655+2350insGC
XR_930842.1:n.1596+2349_1596+2350insGC
XM_011519832.3:c.1437+2349_1437+2350insGC	XP_011518134.1:n.1437+2349_1437+2350insGC
XM_017017072.1:c.1840_1841insGC	XP_016872561.1:p.Pro614ArgfsTer26
XM_017017073.1:c.1783_1784insGC	XP_016872562.1:p.Pro595ArgfsTer26
XM_017017074.1:c.1555-324_1555-323insGC	XP_016872563.1:n.1555-324_1555-323insGC
XM_017017075.1:c.1816_1817insGC	XP_016872564.1:p.Pro606ArgfsTer26
XR_001747717.2:n.1443+6688_1443+6689insGC
NM_153676.4:c.1816_1817insGC MANE Select	NP_710142.1:p.Pro606ArgfsTer26
NM_001297764.2:c.1228-7573_1228-7572insGC	NP_001284693.1:n.1228-7573_1228-7572insGC
NM_005709.4:c.1285-7573_1285-7572insGC MANE Plus Clinical	NP_005700.2:n.1285-7573_1285-7572insGC
NR_123738.2:n.1320-7573_1320-7572insGC