Canonical Allele Identifier: CA2573331842
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2144752928

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919816_74919817insGCCCCC , CM000679.2:g.74919816_74919817insGCCCCC GRCh38
NC_000017.10:g.72915911_72915912insGCCCCC , CM000679.1:g.72915911_72915912insGCCCCC GRCh37
NC_000017.9:g.70427506_70427507insGCCCCC NCBI36
NG_007882.1:g.8440_8441insGGGGGC
NG_033062.1:g.542_543insGCCCCC
NG_007882.2:g.8447_8448insGGGGGC
NG_033062.2:g.542_543insGCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1019_1020insGGGGGC MANE Select ENSP00000480279.1:p.Gly340_Ala341insGlyAla
ENST00000579243.1:c.*618_*619insGGGGGC ENSP00000462568.1:n.*618_*619insGGGGGC
ENST00000614341.4:c.1019_1020insGGGGGC ENSP00000480279.1:p.Gly340_Ala341insGlyAla
NM_001282489.2:c.710_711insGGGGGC NP_001269418.1:p.Gly237_Ala238insGlyAla
NM_173477.4:c.1019_1020insGGGGGC NP_775748.2:p.Gly340_Ala341insGlyAla
XM_011524296.1:c.710_711insGGGGGC XP_011522598.1:p.Gly237_Ala238insGlyAla
XM_011524296.2:c.710_711insGGGGGC XP_011522598.1:p.Gly237_Ala238insGlyAla
NM_173477.5:c.1019_1020insGGGGGC MANE Select NP_775748.2:p.Gly340_Ala341insGlyAla
NM_001282489.3:c.710_711insGGGGGC NP_001269418.1:p.Gly237_Ala238insGlyAla