Canonical Allele Identifier: CA2639747027

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919561-GTCGAGGTCAGAGCACAGCATCAAAGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919570_74919596del , CM000679.2:g.74919570_74919596del	GRCh38
NC_000017.10:g.72915665_72915691del , CM000679.1:g.72915665_72915691del	GRCh37
NC_000017.9:g.70427260_70427286del	NCBI36
NG_007882.1:g.8669_8695del
NG_033062.1:g.296_322del
NG_007882.2:g.8676_8702del
NG_033062.2:g.296_322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1248_1274del MANE Select	ENSP00000480279.1:p.Glu416_Leu424del
ENST00000579243.1:c.*847_*873del	ENSP00000462568.1:n.*847_*873del
ENST00000614341.4:c.1248_1274del	ENSP00000480279.1:p.Glu416_Leu424del
NM_001282489.2:c.939_965del	NP_001269418.1:p.Glu313_Leu321del
NM_173477.4:c.1248_1274del	NP_775748.2:p.Glu416_Leu424del
XM_011524296.1:c.939_965del	XP_011522598.1:p.Glu313_Leu321del
XM_011524296.2:c.939_965del	XP_011522598.1:p.Glu313_Leu321del
NM_173477.5:c.1248_1274del MANE Select	NP_775748.2:p.Glu416_Leu424del
NM_001282489.3:c.939_965del	NP_001269418.1:p.Glu313_Leu321del