Canonical Allele Identifier: CA1955177079

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509358_17509363delinsTTGGGG , CM000673.2:g.17509358_17509363delinsTTGGGG	GRCh38
NC_000011.9:g.17530905_17530910delinsTTGGGG , CM000673.1:g.17530905_17530910delinsTTGGGG	GRCh37
NC_000011.8:g.17487481_17487486delinsTTGGGG	NCBI36
NG_011883.1:g.40054_40059delinsCCCCAA
NG_011883.2:g.40054_40059delinsCCCCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2006_2011delinsCCCCAA MANE Select	ENSP00000005226.7:p.Thr669=
ENST00000318024.9:c.1285-7383_1285-7378delinsCCCCAA MANE Plus Clinical	ENSP00000317018.4:n.1285-7383_1285-7378de...
ENST00000005226.11:c.2006_2011delinsCCCCAA	ENSP00000005226.7:p.Thr669=
ENST00000318024.8:c.1285-7383_1285-7378delinsCCCCAA	ENSP00000317018.4:n.1285-7383_1285-7378de...
ENST00000526313.5:c.1211-7383_1211-7378delinsCCCCAA	ENSP00000432236.1:n.1211-7383_1211-7378de...
ENST00000527020.5:c.1228-7383_1228-7378delinsCCCCAA	ENSP00000436934.1:n.1228-7383_1228-7378de...
ENST00000527720.5:c.1192-7383_1192-7378delinsCCCCAA	ENSP00000432944.1:n.1192-7383_1192-7378de...
ENST00000529563.5:n.168+7092_168+7097delinsCCCCAA
NM_001297764.1:c.1228-7383_1228-7378delinsCCCCAA	NP_001284693.1:n.1228-7383_1228-7378delin...
NM_005709.3:c.1285-7383_1285-7378delinsCCCCAA	NP_005700.2:n.1285-7383_1285-7378delinsCC...
NM_153676.3:c.2006_2011delinsCCCCAA	NP_710142.1:p.Thr669=
NR_123738.1:n.1320-7383_1320-7378delinsCCCCAA
XM_011519831.1:c.2030_2035delinsCCCCAA	XP_011518133.1:p.Thr677=
XM_011519832.1:c.1437+2539_1437+2544delinsCCCCAA	XP_011518134.1:n.1437+2539_1437+2544delin...
XM_011519833.1:c.1334+6878_1334+6883delinsCCCCAA	XP_011518135.1:n.1334+6878_1334+6883delin...
XR_930841.1:n.1655+2539_1655+2544delinsCCCCAA
XR_930842.1:n.1596+2539_1596+2544delinsCCCCAA
XM_011519832.3:c.1437+2539_1437+2544delinsCCCCAA	XP_011518134.1:n.1437+2539_1437+2544delin...
XM_017017072.1:c.2030_2035delinsCCCCAA	XP_016872561.1:p.Thr677=
XM_017017073.1:c.1973_1978delinsCCCCAA	XP_016872562.1:p.Thr658=
XM_017017074.1:c.1555-134_1555-129delinsCCCCAA	XP_016872563.1:n.1555-134_1555-129delinsC...
XM_017017075.1:c.2006_2011delinsCCCCAA	XP_016872564.1:p.Thr669=
XR_001747717.2:n.1443+6878_1443+6883delinsCCCCAA
NM_153676.4:c.2006_2011delinsCCCCAA MANE Select	NP_710142.1:p.Thr669=
NM_001297764.2:c.1228-7383_1228-7378delinsCCCCAA	NP_001284693.1:n.1228-7383_1228-7378delin...
NM_005709.4:c.1285-7383_1285-7378delinsCCCCAA MANE Plus Clinical	NP_005700.2:n.1285-7383_1285-7378delinsCC...
NR_123738.2:n.1320-7383_1320-7378delinsCCCCAA