Canonical Allele Identifier: CA2639747074

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919598-A-ATCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919601_74919605dup , CM000679.2:g.74919601_74919605dup	GRCh38
NC_000017.10:g.72915696_72915700dup , CM000679.1:g.72915696_72915700dup	GRCh37
NC_000017.9:g.70427291_70427295dup	NCBI36
NG_007882.1:g.8654_8658dup
NG_033062.1:g.327_331dup
NG_007882.2:g.8661_8665dup
NG_033062.2:g.327_331dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1233_1237dup MANE Select	ENSP00000480279.1:p.Ile413ArgfsTer8
ENST00000579243.1:c.*832_*836dup	ENSP00000462568.1:n.*832_*836dup
ENST00000614341.4:c.1233_1237dup	ENSP00000480279.1:p.Ile413ArgfsTer8
NM_001282489.2:c.924_928dup	NP_001269418.1:p.Ile310ArgfsTer8
NM_173477.4:c.1233_1237dup	NP_775748.2:p.Ile413ArgfsTer8
XM_011524296.1:c.924_928dup	XP_011522598.1:p.Ile310ArgfsTer8
XM_011524296.2:c.924_928dup	XP_011522598.1:p.Ile310ArgfsTer8
NM_173477.5:c.1233_1237dup MANE Select	NP_775748.2:p.Ile413ArgfsTer8
NM_001282489.3:c.924_928dup	NP_001269418.1:p.Ile310ArgfsTer8