Canonical Allele Identifier: CA2275254174
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917487_74917497delinsAGGTGAAGGAG , CM000679.2:g.74917487_74917497delinsAGGTGAAGGAG GRCh38
NC_000017.10:g.72913581_72913591delinsAGGTGAAGGAG , CM000679.1:g.72913581_72913591delinsAGGTGAAGGAG GRCh37
NC_000017.9:g.70425176_70425186delinsAGGTGAAGGAG NCBI36
NG_007882.1:g.10761_10771delinsCTCCTTCACCT
NG_007882.2:g.10767_10777delinsCTCCTTCACCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*576_*586delinsCTCCTTCACCT MANE Select ENSP00000480279.1:n.*576_*586delinsCTCCTTCACCT
ENST00000614341.4:c.*576_*586delinsCTCCTTCACCT ENSP00000480279.1:n.*576_*586delinsCTCCTTCACCT
NM_001282489.2:c.*576_*586delinsCTCCTTCACCT NP_001269418.1:n.*576_*586delinsCTCCTTCACCT
NM_173477.4:c.*576_*586delinsCTCCTTCACCT NP_775748.2:n.*576_*586delinsCTCCTTCACCT
XM_011524296.1:c.*576_*586delinsCTCCTTCACCT XP_011522598.1:n.*576_*586delinsCTCCTTCACCT
XM_011524296.2:c.*576_*586delinsCTCCTTCACCT XP_011522598.1:n.*576_*586delinsCTCCTTCACCT
NM_173477.5:c.*576_*586delinsCTCCTTCACCT MANE Select NP_775748.2:n.*576_*586delinsCTCCTTCACCT
NM_001282489.3:c.*576_*586delinsCTCCTTCACCT NP_001269418.1:n.*576_*586delinsCTCCTTCACCT