Canonical Allele Identifier: CA2790593450

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509543_17509544insAGT , CM000673.2:g.17509543_17509544insAGT	GRCh38
NC_000011.9:g.17531090_17531091insAGT , CM000673.1:g.17531090_17531091insAGT	GRCh37
NC_000011.8:g.17487666_17487667insAGT	NCBI36
NG_011883.1:g.39873_39874insACT
NG_011883.2:g.39873_39874insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1825_1826insACT MANE Select	ENSP00000005226.7:p.Pro609delinsHisSer
ENST00000318024.9:c.1285-7564_1285-7563insACT MANE Plus Clinical	ENSP00000317018.4:n.1285-7564_1285-7563insACT
ENST00000005226.11:c.1825_1826insACT	ENSP00000005226.7:p.Pro609delinsHisSer
ENST00000318024.8:c.1285-7564_1285-7563insACT	ENSP00000317018.4:n.1285-7564_1285-7563insACT
ENST00000526313.5:c.1211-7564_1211-7563insACT	ENSP00000432236.1:n.1211-7564_1211-7563insACT
ENST00000527020.5:c.1228-7564_1228-7563insACT	ENSP00000436934.1:n.1228-7564_1228-7563insACT
ENST00000527720.5:c.1192-7564_1192-7563insACT	ENSP00000432944.1:n.1192-7564_1192-7563insACT
ENST00000529563.5:n.168+6911_168+6912insACT
NM_001297764.1:c.1228-7564_1228-7563insACT	NP_001284693.1:n.1228-7564_1228-7563insACT
NM_005709.3:c.1285-7564_1285-7563insACT	NP_005700.2:n.1285-7564_1285-7563insACT
NM_153676.3:c.1825_1826insACT	NP_710142.1:p.Pro609delinsHisSer
NR_123738.1:n.1320-7564_1320-7563insACT
XM_011519831.1:c.1849_1850insACT	XP_011518133.1:p.Pro617delinsHisSer
XM_011519832.1:c.1437+2358_1437+2359insACT	XP_011518134.1:n.1437+2358_1437+2359insACT
XM_011519833.1:c.1334+6697_1334+6698insACT	XP_011518135.1:n.1334+6697_1334+6698insACT
XR_930841.1:n.1655+2358_1655+2359insACT
XR_930842.1:n.1596+2358_1596+2359insACT
XM_011519832.3:c.1437+2358_1437+2359insACT	XP_011518134.1:n.1437+2358_1437+2359insACT
XM_017017072.1:c.1849_1850insACT	XP_016872561.1:p.Pro617delinsHisSer
XM_017017073.1:c.1792_1793insACT	XP_016872562.1:p.Pro598delinsHisSer
XM_017017074.1:c.1555-315_1555-314insACT	XP_016872563.1:n.1555-315_1555-314insACT
XM_017017075.1:c.1825_1826insACT	XP_016872564.1:p.Pro609delinsHisSer
XR_001747717.2:n.1443+6697_1443+6698insACT
NM_153676.4:c.1825_1826insACT MANE Select	NP_710142.1:p.Pro609delinsHisSer
NM_001297764.2:c.1228-7564_1228-7563insACT	NP_001284693.1:n.1228-7564_1228-7563insACT
NM_005709.4:c.1285-7564_1285-7563insACT MANE Plus Clinical	NP_005700.2:n.1285-7564_1285-7563insACT
NR_123738.2:n.1320-7564_1320-7563insACT