Canonical Allele Identifier: CA2275255330

Gene: USH1G

Linked Data

• dbSNP Id: rs2038915351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919903_74919916del , CM000679.2:g.74919903_74919916del	GRCh38
NC_000017.10:g.72915998_72916011del , CM000679.1:g.72915998_72916011del	GRCh37
NC_000017.9:g.70427593_70427606del	NCBI36
NG_007882.1:g.8341_8354del
NG_033062.1:g.629_642del
NG_007882.2:g.8348_8361del
NG_033062.2:g.629_642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.920_933del MANE Select	ENSP00000480279.1:p.Phe307SerfsTer?
ENST00000579243.1:c.*519_*532del	ENSP00000462568.1:n.*519_*532del
ENST00000614341.4:c.920_933del	ENSP00000480279.1:p.Phe307SerfsTer?
NM_001282489.2:c.611_624del	NP_001269418.1:p.Phe204SerfsTer?
NM_173477.4:c.920_933del	NP_775748.2:p.Phe307SerfsTer?
XM_011524296.1:c.611_624del	XP_011522598.1:p.Phe204SerfsTer?
XM_011524296.2:c.611_624del	XP_011522598.1:p.Phe204SerfsTer?
NM_173477.5:c.920_933del MANE Select	NP_775748.2:p.Phe307SerfsTer?
NM_001282489.3:c.611_624del	NP_001269418.1:p.Phe204SerfsTer?