Canonical Allele Identifier: CA8753906

Gene: USH1G

Linked Data

• dbSNP Id: rs777537471
• ExAC: 17:72915697 TCTC / T
• gnomAD v2: 17-72915697-TCTC-T
• gnomAD v4: 17-74919602-TCTC-T
• MyVariant Identifiers: chr17:g.72915698_72915700del (hg19) ; chr17:g.74919603_74919605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919605_74919607del , CM000679.2:g.74919605_74919607del	GRCh38
NC_000017.10:g.72915700_72915702del , CM000679.1:g.72915700_72915702del	GRCh37
NC_000017.9:g.70427295_70427297del	NCBI36
NG_007882.1:g.8652_8654del
NG_033062.1:g.331_333del
NG_007882.2:g.8659_8661del
NG_033062.2:g.331_333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1231_1233del MANE Select	ENSP00000480279.1:p.Glu411del
ENST00000579243.1:c.*830_*832del	ENSP00000462568.1:n.*830_*832del
ENST00000614341.4:c.1231_1233del	ENSP00000480279.1:p.Glu411del
NM_001282489.2:c.922_924del	NP_001269418.1:p.Glu308del
NM_173477.4:c.1231_1233del	NP_775748.2:p.Glu411del
XM_011524296.1:c.922_924del	XP_011522598.1:p.Glu308del
XM_011524296.2:c.922_924del	XP_011522598.1:p.Glu308del
NM_173477.5:c.1231_1233del MANE Select	NP_775748.2:p.Glu411del
NM_001282489.3:c.922_924del	NP_001269418.1:p.Glu308del