Canonical Allele Identifier: CA1955177101

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509411_17509413delinsCTG , CM000673.2:g.17509411_17509413delinsCTG	GRCh38
NC_000011.9:g.17530958_17530960delinsCTG , CM000673.1:g.17530958_17530960delinsCTG	GRCh37
NC_000011.8:g.17487534_17487536delinsCTG	NCBI36
NG_011883.1:g.40004_40006delinsCAG
NG_011883.2:g.40004_40006delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1956_1958delinsCAG MANE Select	ENSP00000005226.7:p.His652=
ENST00000318024.9:c.1285-7433_1285-7431delinsCAG MANE Plus Clinical	ENSP00000317018.4:n.1285-7433_1285-7431delinsCAG
ENST00000005226.11:c.1956_1958delinsCAG	ENSP00000005226.7:p.His652=
ENST00000318024.8:c.1285-7433_1285-7431delinsCAG	ENSP00000317018.4:n.1285-7433_1285-7431delinsCAG
ENST00000526313.5:c.1211-7433_1211-7431delinsCAG	ENSP00000432236.1:n.1211-7433_1211-7431delinsCAG
ENST00000527020.5:c.1228-7433_1228-7431delinsCAG	ENSP00000436934.1:n.1228-7433_1228-7431delinsCAG
ENST00000527720.5:c.1192-7433_1192-7431delinsCAG	ENSP00000432944.1:n.1192-7433_1192-7431delinsCAG
ENST00000529563.5:n.168+7042_168+7044delinsCAG
NM_001297764.1:c.1228-7433_1228-7431delinsCAG	NP_001284693.1:n.1228-7433_1228-7431delinsCAG
NM_005709.3:c.1285-7433_1285-7431delinsCAG	NP_005700.2:n.1285-7433_1285-7431delinsCAG
NM_153676.3:c.1956_1958delinsCAG	NP_710142.1:p.His652=
NR_123738.1:n.1320-7433_1320-7431delinsCAG
XM_011519831.1:c.1980_1982delinsCAG	XP_011518133.1:p.His660=
XM_011519832.1:c.1437+2489_1437+2491delinsCAG	XP_011518134.1:n.1437+2489_1437+2491delinsCAG
XM_011519833.1:c.1334+6828_1334+6830delinsCAG	XP_011518135.1:n.1334+6828_1334+6830delinsCAG
XR_930841.1:n.1655+2489_1655+2491delinsCAG
XR_930842.1:n.1596+2489_1596+2491delinsCAG
XM_011519832.3:c.1437+2489_1437+2491delinsCAG	XP_011518134.1:n.1437+2489_1437+2491delinsCAG
XM_017017072.1:c.1980_1982delinsCAG	XP_016872561.1:p.His660=
XM_017017073.1:c.1923_1925delinsCAG	XP_016872562.1:p.His641=
XM_017017074.1:c.1555-184_1555-182delinsCAG	XP_016872563.1:n.1555-184_1555-182delinsCAG
XM_017017075.1:c.1956_1958delinsCAG	XP_016872564.1:p.His652=
XR_001747717.2:n.1443+6828_1443+6830delinsCAG
NM_153676.4:c.1956_1958delinsCAG MANE Select	NP_710142.1:p.His652=
NM_001297764.2:c.1228-7433_1228-7431delinsCAG	NP_001284693.1:n.1228-7433_1228-7431delinsCAG
NM_005709.4:c.1285-7433_1285-7431delinsCAG MANE Plus Clinical	NP_005700.2:n.1285-7433_1285-7431delinsCAG
NR_123738.2:n.1320-7433_1320-7431delinsCAG