Canonical Allele Identifier: CA2639747151

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919696-GCCTAAATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919697_74919704del , CM000679.2:g.74919697_74919704del	GRCh38
NC_000017.10:g.72915792_72915799del , CM000679.1:g.72915792_72915799del	GRCh37
NC_000017.9:g.70427387_70427394del	NCBI36
NG_007882.1:g.8553_8560del
NG_033062.1:g.423_430del
NG_007882.2:g.8560_8567del
NG_033062.2:g.423_430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1132_1139del MANE Select	ENSP00000480279.1:p.Asp378LeufsTer10
ENST00000579243.1:c.*731_*738del	ENSP00000462568.1:n.*731_*738del
ENST00000614341.4:c.1132_1139del	ENSP00000480279.1:p.Asp378LeufsTer10
NM_001282489.2:c.823_830del	NP_001269418.1:p.Asp275LeufsTer10
NM_173477.4:c.1132_1139del	NP_775748.2:p.Asp378LeufsTer10
XM_011524296.1:c.823_830del	XP_011522598.1:p.Asp275LeufsTer10
XM_011524296.2:c.823_830del	XP_011522598.1:p.Asp275LeufsTer10
NM_173477.5:c.1132_1139del MANE Select	NP_775748.2:p.Asp378LeufsTer10
NM_001282489.3:c.823_830del	NP_001269418.1:p.Asp275LeufsTer10