Canonical Allele Identifier: CA1955177136

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509489_17509490delinsTC , CM000673.2:g.17509489_17509490delinsTC	GRCh38
NC_000011.9:g.17531036_17531037delinsTC , CM000673.1:g.17531036_17531037delinsTC	GRCh37
NC_000011.8:g.17487612_17487613delinsTC	NCBI36
NG_011883.1:g.39927_39928delinsGA
NG_011883.2:g.39927_39928delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1879_1880delinsGA MANE Select	ENSP00000005226.7:p.Glu627=
ENST00000318024.9:c.1285-7510_1285-7509delinsGA MANE Plus Clinical	ENSP00000317018.4:n.1285-7510_1285-7509delinsGA
ENST00000005226.11:c.1879_1880delinsGA	ENSP00000005226.7:p.Glu627=
ENST00000318024.8:c.1285-7510_1285-7509delinsGA	ENSP00000317018.4:n.1285-7510_1285-7509delinsGA
ENST00000526313.5:c.1211-7510_1211-7509delinsGA	ENSP00000432236.1:n.1211-7510_1211-7509delinsGA
ENST00000527020.5:c.1228-7510_1228-7509delinsGA	ENSP00000436934.1:n.1228-7510_1228-7509delinsGA
ENST00000527720.5:c.1192-7510_1192-7509delinsGA	ENSP00000432944.1:n.1192-7510_1192-7509delinsGA
ENST00000529563.5:n.168+6965_168+6966delinsGA
NM_001297764.1:c.1228-7510_1228-7509delinsGA	NP_001284693.1:n.1228-7510_1228-7509delinsGA
NM_005709.3:c.1285-7510_1285-7509delinsGA	NP_005700.2:n.1285-7510_1285-7509delinsGA
NM_153676.3:c.1879_1880delinsGA	NP_710142.1:p.Glu627=
NR_123738.1:n.1320-7510_1320-7509delinsGA
XM_011519831.1:c.1903_1904delinsGA	XP_011518133.1:p.Glu635=
XM_011519832.1:c.1437+2412_1437+2413delinsGA	XP_011518134.1:n.1437+2412_1437+2413delinsGA
XM_011519833.1:c.1334+6751_1334+6752delinsGA	XP_011518135.1:n.1334+6751_1334+6752delinsGA
XR_930841.1:n.1655+2412_1655+2413delinsGA
XR_930842.1:n.1596+2412_1596+2413delinsGA
XM_011519832.3:c.1437+2412_1437+2413delinsGA	XP_011518134.1:n.1437+2412_1437+2413delinsGA
XM_017017072.1:c.1903_1904delinsGA	XP_016872561.1:p.Glu635=
XM_017017073.1:c.1846_1847delinsGA	XP_016872562.1:p.Glu616=
XM_017017074.1:c.1555-261_1555-260delinsGA	XP_016872563.1:n.1555-261_1555-260delinsGA
XM_017017075.1:c.1879_1880delinsGA	XP_016872564.1:p.Glu627=
XR_001747717.2:n.1443+6751_1443+6752delinsGA
NM_153676.4:c.1879_1880delinsGA MANE Select	NP_710142.1:p.Glu627=
NM_001297764.2:c.1228-7510_1228-7509delinsGA	NP_001284693.1:n.1228-7510_1228-7509delinsGA
NM_005709.4:c.1285-7510_1285-7509delinsGA MANE Plus Clinical	NP_005700.2:n.1285-7510_1285-7509delinsGA
NR_123738.2:n.1320-7510_1320-7509delinsGA