Canonical Allele Identifier: CA2790593447

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509542_17509543insACA , CM000673.2:g.17509542_17509543insACA	GRCh38
NC_000011.9:g.17531089_17531090insACA , CM000673.1:g.17531089_17531090insACA	GRCh37
NC_000011.8:g.17487665_17487666insACA	NCBI36
NG_011883.1:g.39874_39875insTGT
NG_011883.2:g.39874_39875insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1826_1827insTGT MANE Select	ENSP00000005226.7:p.Pro609_Ser610insVal
ENST00000318024.9:c.1285-7563_1285-7562insTGT MANE Plus Clinical	ENSP00000317018.4:n.1285-7563_1285-7562insTGT
ENST00000005226.11:c.1826_1827insTGT	ENSP00000005226.7:p.Pro609_Ser610insVal
ENST00000318024.8:c.1285-7563_1285-7562insTGT	ENSP00000317018.4:n.1285-7563_1285-7562insTGT
ENST00000526313.5:c.1211-7563_1211-7562insTGT	ENSP00000432236.1:n.1211-7563_1211-7562insTGT
ENST00000527020.5:c.1228-7563_1228-7562insTGT	ENSP00000436934.1:n.1228-7563_1228-7562insTGT
ENST00000527720.5:c.1192-7563_1192-7562insTGT	ENSP00000432944.1:n.1192-7563_1192-7562insTGT
ENST00000529563.5:n.168+6912_168+6913insTGT
NM_001297764.1:c.1228-7563_1228-7562insTGT	NP_001284693.1:n.1228-7563_1228-7562insTGT
NM_005709.3:c.1285-7563_1285-7562insTGT	NP_005700.2:n.1285-7563_1285-7562insTGT
NM_153676.3:c.1826_1827insTGT	NP_710142.1:p.Pro609_Ser610insVal
NR_123738.1:n.1320-7563_1320-7562insTGT
XM_011519831.1:c.1850_1851insTGT	XP_011518133.1:p.Pro617_Ser618insVal
XM_011519832.1:c.1437+2359_1437+2360insTGT	XP_011518134.1:n.1437+2359_1437+2360insTGT
XM_011519833.1:c.1334+6698_1334+6699insTGT	XP_011518135.1:n.1334+6698_1334+6699insTGT
XR_930841.1:n.1655+2359_1655+2360insTGT
XR_930842.1:n.1596+2359_1596+2360insTGT
XM_011519832.3:c.1437+2359_1437+2360insTGT	XP_011518134.1:n.1437+2359_1437+2360insTGT
XM_017017072.1:c.1850_1851insTGT	XP_016872561.1:p.Pro617_Ser618insVal
XM_017017073.1:c.1793_1794insTGT	XP_016872562.1:p.Pro598_Ser599insVal
XM_017017074.1:c.1555-314_1555-313insTGT	XP_016872563.1:n.1555-314_1555-313insTGT
XM_017017075.1:c.1826_1827insTGT	XP_016872564.1:p.Pro609_Ser610insVal
XR_001747717.2:n.1443+6698_1443+6699insTGT
NM_153676.4:c.1826_1827insTGT MANE Select	NP_710142.1:p.Pro609_Ser610insVal
NM_001297764.2:c.1228-7563_1228-7562insTGT	NP_001284693.1:n.1228-7563_1228-7562insTGT
NM_005709.4:c.1285-7563_1285-7562insTGT MANE Plus Clinical	NP_005700.2:n.1285-7563_1285-7562insTGT
NR_123738.2:n.1320-7563_1320-7562insTGT