Canonical Allele Identifier: CA2639747593

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919928-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919930dup , CM000679.2:g.74919930dup	GRCh38
NC_000017.10:g.72916025dup , CM000679.1:g.72916025dup	GRCh37
NC_000017.9:g.70427620dup	NCBI36
NG_007882.1:g.8328dup
NG_033062.1:g.656dup
NG_007882.2:g.8335dup
NG_033062.2:g.656dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.907dup MANE Select	ENSP00000480279.1:p.His303ProfsTer?
ENST00000579243.1:c.*506dup	ENSP00000462568.1:n.*506dup
ENST00000614341.4:c.907dup	ENSP00000480279.1:p.His303ProfsTer?
NM_001282489.2:c.598dup	NP_001269418.1:p.His200ProfsTer?
NM_173477.4:c.907dup	NP_775748.2:p.His303ProfsTer?
XM_011524296.1:c.598dup	XP_011522598.1:p.His200ProfsTer?
XM_011524296.2:c.598dup	XP_011522598.1:p.His200ProfsTer?
NM_173477.5:c.907dup MANE Select	NP_775748.2:p.His303ProfsTer?
NM_001282489.3:c.598dup	NP_001269418.1:p.His200ProfsTer?