Canonical Allele Identifier: CA2612672539

Gene: USH1C

Linked Data

• gnomAD v4: 11-17498190-G-GCAGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498202_17498207dup , CM000673.2:g.17498202_17498207dup	GRCh38
NC_000011.9:g.17519749_17519754dup , CM000673.1:g.17519749_17519754dup	GRCh37
NC_000011.8:g.17476325_17476330dup	NCBI36
NG_011883.1:g.51221_51226dup
NG_011883.2:g.51221_51226dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2456_2461dup MANE Select	ENSP00000005226.7:p.Ala820_Ala821insGluAl...
ENST00000318024.9:c.1556_1561dup MANE Plus Clinical	ENSP00000317018.4:p.Ala520_Ala521insGluAl...
ENST00000005226.11:c.2456_2461dup	ENSP00000005226.7:p.Ala820_Ala821insGluAl...
ENST00000318024.8:c.1556_1561dup	ENSP00000317018.4:p.Ala520_Ala521insGluAl...
ENST00000526313.5:c.*270_*275dup	ENSP00000432236.1:n.*270_*275dup
ENST00000527020.5:c.1499_1504dup	ENSP00000436934.1:p.Ala501_Ala502insGluAl...
ENST00000527720.5:c.1463_1468dup	ENSP00000432944.1:p.Ala489_Ala490insGluAl...
ENST00000529563.5:n.440_445dup
NM_001297764.1:c.1499_1504dup	NP_001284693.1:p.Ala501_Ala502insGluAla
NM_005709.3:c.1556_1561dup	NP_005700.2:p.Ala520_Ala521insGluAla
NM_153676.3:c.2456_2461dup	NP_710142.1:p.Ala820_Ala821insGluAla
NR_123738.1:n.1591_1596dup
XM_011519831.1:c.2480_2485dup	XP_011518133.1:p.Ala828_Ala829insGluAla
XM_011519832.1:c.1709_1714dup	XP_011518134.1:p.Ala571_Ala572insGluAla
XM_011519832.3:c.1709_1714dup	XP_011518134.1:p.Ala571_Ala572insGluAla
XM_017017075.1:c.2456_2461dup	XP_016872564.1:p.Ala820_Ala821insGluAla
XR_001747717.2:n.1715_1720dup
NM_153676.4:c.2456_2461dup MANE Select	NP_710142.1:p.Ala820_Ala821insGluAla
NM_001297764.2:c.1499_1504dup	NP_001284693.1:p.Ala501_Ala502insGluAla
NM_005709.4:c.1556_1561dup MANE Plus Clinical	NP_005700.2:p.Ala520_Ala521insGluAla
NR_123738.2:n.1591_1596dup