Canonical Allele Identifier: CA2275255331

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919903_74919916delinsGCCGGGGCGGGTAA , CM000679.2:g.74919903_74919916delinsGCCGGGGCGGGTAA	GRCh38
NC_000017.10:g.72915998_72916011delinsGCCGGGGCGGGTAA , CM000679.1:g.72915998_72916011delinsGCCGGGGCGGGTAA	GRCh37
NC_000017.9:g.70427593_70427606delinsGCCGGGGCGGGTAA	NCBI36
NG_007882.1:g.8341_8354delinsTTACCCGCCCCGGC
NG_033062.1:g.629_642delinsGCCGGGGCGGGTAA
NG_007882.2:g.8348_8361delinsTTACCCGCCCCGGC
NG_033062.2:g.629_642delinsGCCGGGGCGGGTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.920_933delinsTTACCCGCCCCGGC MANE Select	ENSP00000480279.1:p.Phe307=
ENST00000579243.1:c.*519_*532delinsTTACCCGCCCCGGC	ENSP00000462568.1:n.*519_*532delinsTTACCCGCCCCGGC
ENST00000614341.4:c.920_933delinsTTACCCGCCCCGGC	ENSP00000480279.1:p.Phe307=
NM_001282489.2:c.611_624delinsTTACCCGCCCCGGC	NP_001269418.1:p.Phe204=
NM_173477.4:c.920_933delinsTTACCCGCCCCGGC	NP_775748.2:p.Phe307=
XM_011524296.1:c.611_624delinsTTACCCGCCCCGGC	XP_011522598.1:p.Phe204=
XM_011524296.2:c.611_624delinsTTACCCGCCCCGGC	XP_011522598.1:p.Phe204=
NM_173477.5:c.920_933delinsTTACCCGCCCCGGC MANE Select	NP_775748.2:p.Phe307=
NM_001282489.3:c.611_624delinsTTACCCGCCCCGGC	NP_001269418.1:p.Phe204=