Canonical Allele Identifier: CA912971849

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17531108dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509561dup , CM000673.2:g.17509561dup	GRCh38
NC_000011.9:g.17531108dup , CM000673.1:g.17531108dup	GRCh37
NC_000011.8:g.17487684dup	NCBI36
NG_011883.1:g.39857dup
NG_011883.2:g.39857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1809dup MANE Select	ENSP00000005226.7:p.Pro604SerfsTer?
ENST00000318024.9:c.1285-7580dup MANE Plus Clinical	ENSP00000317018.4:n.1285-7580dup
ENST00000005226.11:c.1809dup	ENSP00000005226.7:p.Pro604SerfsTer?
ENST00000318024.8:c.1285-7580dup	ENSP00000317018.4:n.1285-7580dup
ENST00000526313.5:c.1211-7580dup	ENSP00000432236.1:n.1211-7580dup
ENST00000527020.5:c.1228-7580dup	ENSP00000436934.1:n.1228-7580dup
ENST00000527720.5:c.1192-7580dup	ENSP00000432944.1:n.1192-7580dup
ENST00000529563.5:n.168+6895dup
NM_001297764.1:c.1228-7580dup	NP_001284693.1:n.1228-7580dup
NM_005709.3:c.1285-7580dup	NP_005700.2:n.1285-7580dup
NM_153676.3:c.1809dup	NP_710142.1:p.Pro604SerfsTer?
NR_123738.1:n.1320-7580dup
XM_011519831.1:c.1833dup	XP_011518133.1:p.Pro612SerfsTer?
XM_011519832.1:c.1437+2342dup	XP_011518134.1:n.1437+2342dup
XM_011519833.1:c.1334+6681dup	XP_011518135.1:n.1334+6681dup
XR_930841.1:n.1655+2342dup
XR_930842.1:n.1596+2342dup
XM_011519832.3:c.1437+2342dup	XP_011518134.1:n.1437+2342dup
XM_017017072.1:c.1833dup	XP_016872561.1:p.Pro612SerfsTer?
XM_017017073.1:c.1776dup	XP_016872562.1:p.Pro593SerfsTer?
XM_017017074.1:c.1555-331dup	XP_016872563.1:n.1555-331dup
XM_017017075.1:c.1809dup	XP_016872564.1:p.Pro604SerfsTer?
XR_001747717.2:n.1443+6681dup
NM_153676.4:c.1809dup MANE Select	NP_710142.1:p.Pro604SerfsTer?
NM_001297764.2:c.1228-7580dup	NP_001284693.1:n.1228-7580dup
NM_005709.4:c.1285-7580dup MANE Plus Clinical	NP_005700.2:n.1285-7580dup
NR_123738.2:n.1320-7580dup