Canonical Allele Identifier: CA2275255167

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919602_74919605delinsTCTC , CM000679.2:g.74919602_74919605delinsTCTC	GRCh38
NC_000017.10:g.72915697_72915700delinsTCTC , CM000679.1:g.72915697_72915700delinsTCTC	GRCh37
NC_000017.9:g.70427292_70427295delinsTCTC	NCBI36
NG_007882.1:g.8652_8655delinsGAGA
NG_033062.1:g.328_331delinsTCTC
NG_007882.2:g.8659_8662delinsGAGA
NG_033062.2:g.328_331delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1231_1234delinsGAGA MANE Select	ENSP00000480279.1:p.Glu411=
ENST00000579243.1:c.*830_*833delinsGAGA	ENSP00000462568.1:n.*830_*833delinsGAGA
ENST00000614341.4:c.1231_1234delinsGAGA	ENSP00000480279.1:p.Glu411=
NM_001282489.2:c.922_925delinsGAGA	NP_001269418.1:p.Glu308=
NM_173477.4:c.1231_1234delinsGAGA	NP_775748.2:p.Glu411=
XM_011524296.1:c.922_925delinsGAGA	XP_011522598.1:p.Glu308=
XM_011524296.2:c.922_925delinsGAGA	XP_011522598.1:p.Glu308=
NM_173477.5:c.1231_1234delinsGAGA MANE Select	NP_775748.2:p.Glu411=
NM_001282489.3:c.922_925delinsGAGA	NP_001269418.1:p.Glu308=