Canonical Allele Identifier: CA1955177158

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509528_17509529delinsTG , CM000673.2:g.17509528_17509529delinsTG	GRCh38
NC_000011.9:g.17531075_17531076delinsTG , CM000673.1:g.17531075_17531076delinsTG	GRCh37
NC_000011.8:g.17487651_17487652delinsTG	NCBI36
NG_011883.1:g.39888_39889delinsCA
NG_011883.2:g.39888_39889delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1840_1841delinsCA MANE Select	ENSP00000005226.7:p.Gln614=
ENST00000318024.9:c.1285-7549_1285-7548delinsCA MANE Plus Clinical	ENSP00000317018.4:n.1285-7549_1285-7548delinsCA
ENST00000005226.11:c.1840_1841delinsCA	ENSP00000005226.7:p.Gln614=
ENST00000318024.8:c.1285-7549_1285-7548delinsCA	ENSP00000317018.4:n.1285-7549_1285-7548delinsCA
ENST00000526313.5:c.1211-7549_1211-7548delinsCA	ENSP00000432236.1:n.1211-7549_1211-7548delinsCA
ENST00000527020.5:c.1228-7549_1228-7548delinsCA	ENSP00000436934.1:n.1228-7549_1228-7548delinsCA
ENST00000527720.5:c.1192-7549_1192-7548delinsCA	ENSP00000432944.1:n.1192-7549_1192-7548delinsCA
ENST00000529563.5:n.168+6926_168+6927delinsCA
NM_001297764.1:c.1228-7549_1228-7548delinsCA	NP_001284693.1:n.1228-7549_1228-7548delinsCA
NM_005709.3:c.1285-7549_1285-7548delinsCA	NP_005700.2:n.1285-7549_1285-7548delinsCA
NM_153676.3:c.1840_1841delinsCA	NP_710142.1:p.Gln614=
NR_123738.1:n.1320-7549_1320-7548delinsCA
XM_011519831.1:c.1864_1865delinsCA	XP_011518133.1:p.Gln622=
XM_011519832.1:c.1437+2373_1437+2374delinsCA	XP_011518134.1:n.1437+2373_1437+2374delinsCA
XM_011519833.1:c.1334+6712_1334+6713delinsCA	XP_011518135.1:n.1334+6712_1334+6713delinsCA
XR_930841.1:n.1655+2373_1655+2374delinsCA
XR_930842.1:n.1596+2373_1596+2374delinsCA
XM_011519832.3:c.1437+2373_1437+2374delinsCA	XP_011518134.1:n.1437+2373_1437+2374delinsCA
XM_017017072.1:c.1864_1865delinsCA	XP_016872561.1:p.Gln622=
XM_017017073.1:c.1807_1808delinsCA	XP_016872562.1:p.Gln603=
XM_017017074.1:c.1555-300_1555-299delinsCA	XP_016872563.1:n.1555-300_1555-299delinsCA
XM_017017075.1:c.1840_1841delinsCA	XP_016872564.1:p.Gln614=
XR_001747717.2:n.1443+6712_1443+6713delinsCA
NM_153676.4:c.1840_1841delinsCA MANE Select	NP_710142.1:p.Gln614=
NM_001297764.2:c.1228-7549_1228-7548delinsCA	NP_001284693.1:n.1228-7549_1228-7548delinsCA
NM_005709.4:c.1285-7549_1285-7548delinsCA MANE Plus Clinical	NP_005700.2:n.1285-7549_1285-7548delinsCA
NR_123738.2:n.1320-7549_1320-7548delinsCA