Canonical Allele Identifier: CA1955177161

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509530_17509532delinsGGT , CM000673.2:g.17509530_17509532delinsGGT	GRCh38
NC_000011.9:g.17531077_17531079delinsGGT , CM000673.1:g.17531077_17531079delinsGGT	GRCh37
NC_000011.8:g.17487653_17487655delinsGGT	NCBI36
NG_011883.1:g.39885_39887delinsACC
NG_011883.2:g.39885_39887delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1837_1839delinsACC MANE Select	ENSP00000005226.7:p.Thr613=
ENST00000318024.9:c.1285-7552_1285-7550delinsACC MANE Plus Clinical	ENSP00000317018.4:n.1285-7552_1285-7550delinsACC
ENST00000005226.11:c.1837_1839delinsACC	ENSP00000005226.7:p.Thr613=
ENST00000318024.8:c.1285-7552_1285-7550delinsACC	ENSP00000317018.4:n.1285-7552_1285-7550delinsACC
ENST00000526313.5:c.1211-7552_1211-7550delinsACC	ENSP00000432236.1:n.1211-7552_1211-7550delinsACC
ENST00000527020.5:c.1228-7552_1228-7550delinsACC	ENSP00000436934.1:n.1228-7552_1228-7550delinsACC
ENST00000527720.5:c.1192-7552_1192-7550delinsACC	ENSP00000432944.1:n.1192-7552_1192-7550delinsACC
ENST00000529563.5:n.168+6923_168+6925delinsACC
NM_001297764.1:c.1228-7552_1228-7550delinsACC	NP_001284693.1:n.1228-7552_1228-7550delinsACC
NM_005709.3:c.1285-7552_1285-7550delinsACC	NP_005700.2:n.1285-7552_1285-7550delinsACC
NM_153676.3:c.1837_1839delinsACC	NP_710142.1:p.Thr613=
NR_123738.1:n.1320-7552_1320-7550delinsACC
XM_011519831.1:c.1861_1863delinsACC	XP_011518133.1:p.Thr621=
XM_011519832.1:c.1437+2370_1437+2372delinsACC	XP_011518134.1:n.1437+2370_1437+2372delinsACC
XM_011519833.1:c.1334+6709_1334+6711delinsACC	XP_011518135.1:n.1334+6709_1334+6711delinsACC
XR_930841.1:n.1655+2370_1655+2372delinsACC
XR_930842.1:n.1596+2370_1596+2372delinsACC
XM_011519832.3:c.1437+2370_1437+2372delinsACC	XP_011518134.1:n.1437+2370_1437+2372delinsACC
XM_017017072.1:c.1861_1863delinsACC	XP_016872561.1:p.Thr621=
XM_017017073.1:c.1804_1806delinsACC	XP_016872562.1:p.Thr602=
XM_017017074.1:c.1555-303_1555-301delinsACC	XP_016872563.1:n.1555-303_1555-301delinsACC
XM_017017075.1:c.1837_1839delinsACC	XP_016872564.1:p.Thr613=
XR_001747717.2:n.1443+6709_1443+6711delinsACC
NM_153676.4:c.1837_1839delinsACC MANE Select	NP_710142.1:p.Thr613=
NM_001297764.2:c.1228-7552_1228-7550delinsACC	NP_001284693.1:n.1228-7552_1228-7550delinsACC
NM_005709.4:c.1285-7552_1285-7550delinsACC MANE Plus Clinical	NP_005700.2:n.1285-7552_1285-7550delinsACC
NR_123738.2:n.1320-7552_1320-7550delinsACC