Canonical Allele Identifier: CA2275254082
Gene: USH1G HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917277_74917278delinsGC , CM000679.2:g.74917277_74917278delinsGC GRCh38
NC_000017.10:g.72913371_72913372delinsGC , CM000679.1:g.72913371_72913372delinsGC GRCh37
NC_000017.9:g.70424966_70424967delinsGC NCBI36
NG_007882.1:g.10980_10981delinsGC
NG_007882.2:g.10986_10987delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*795_*796delinsGC MANE Select ENSP00000480279.1:n.*795_*796delinsGC
ENST00000614341.4:c.*795_*796delinsGC ENSP00000480279.1:n.*795_*796delinsGC
NM_001282489.2:c.*795_*796delinsGC NP_001269418.1:n.*795_*796delinsGC
NM_173477.4:c.*795_*796delinsGC NP_775748.2:n.*795_*796delinsGC
XM_011524296.1:c.*795_*796delinsGC XP_011522598.1:n.*795_*796delinsGC
XM_011524296.2:c.*795_*796delinsGC XP_011522598.1:n.*795_*796delinsGC
NM_173477.5:c.*795_*796delinsGC MANE Select NP_775748.2:n.*795_*796delinsGC
NM_001282489.3:c.*795_*796delinsGC NP_001269418.1:n.*795_*796delinsGC
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