Canonical Allele Identifier: CA1955177185

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509562_17509563delinsTG , CM000673.2:g.17509562_17509563delinsTG	GRCh38
NC_000011.9:g.17531109_17531110delinsTG , CM000673.1:g.17531109_17531110delinsTG	GRCh37
NC_000011.8:g.17487685_17487686delinsTG	NCBI36
NG_011883.1:g.39854_39855delinsCA
NG_011883.2:g.39854_39855delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1806_1807delinsCA MANE Select	ENSP00000005226.7:p.Pro602=
ENST00000318024.9:c.1285-7583_1285-7582delinsCA MANE Plus Clinical	ENSP00000317018.4:n.1285-7583_1285-7582delinsCA
ENST00000005226.11:c.1806_1807delinsCA	ENSP00000005226.7:p.Pro602=
ENST00000318024.8:c.1285-7583_1285-7582delinsCA	ENSP00000317018.4:n.1285-7583_1285-7582delinsCA
ENST00000526313.5:c.1211-7583_1211-7582delinsCA	ENSP00000432236.1:n.1211-7583_1211-7582delinsCA
ENST00000527020.5:c.1228-7583_1228-7582delinsCA	ENSP00000436934.1:n.1228-7583_1228-7582delinsCA
ENST00000527720.5:c.1192-7583_1192-7582delinsCA	ENSP00000432944.1:n.1192-7583_1192-7582delinsCA
ENST00000529563.5:n.168+6892_168+6893delinsCA
NM_001297764.1:c.1228-7583_1228-7582delinsCA	NP_001284693.1:n.1228-7583_1228-7582delinsCA
NM_005709.3:c.1285-7583_1285-7582delinsCA	NP_005700.2:n.1285-7583_1285-7582delinsCA
NM_153676.3:c.1806_1807delinsCA	NP_710142.1:p.Pro602=
NR_123738.1:n.1320-7583_1320-7582delinsCA
XM_011519831.1:c.1830_1831delinsCA	XP_011518133.1:p.Pro610=
XM_011519832.1:c.1437+2339_1437+2340delinsCA	XP_011518134.1:n.1437+2339_1437+2340delinsCA
XM_011519833.1:c.1334+6678_1334+6679delinsCA	XP_011518135.1:n.1334+6678_1334+6679delinsCA
XR_930841.1:n.1655+2339_1655+2340delinsCA
XR_930842.1:n.1596+2339_1596+2340delinsCA
XM_011519832.3:c.1437+2339_1437+2340delinsCA	XP_011518134.1:n.1437+2339_1437+2340delinsCA
XM_017017072.1:c.1830_1831delinsCA	XP_016872561.1:p.Pro610=
XM_017017073.1:c.1773_1774delinsCA	XP_016872562.1:p.Pro591=
XM_017017074.1:c.1555-334_1555-333delinsCA	XP_016872563.1:n.1555-334_1555-333delinsCA
XM_017017075.1:c.1806_1807delinsCA	XP_016872564.1:p.Pro602=
XR_001747717.2:n.1443+6678_1443+6679delinsCA
NM_153676.4:c.1806_1807delinsCA MANE Select	NP_710142.1:p.Pro602=
NM_001297764.2:c.1228-7583_1228-7582delinsCA	NP_001284693.1:n.1228-7583_1228-7582delinsCA
NM_005709.4:c.1285-7583_1285-7582delinsCA MANE Plus Clinical	NP_005700.2:n.1285-7583_1285-7582delinsCA
NR_123738.2:n.1320-7583_1320-7582delinsCA