Canonical Allele Identifier: CA1220374036
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675695_215675698delinsTCAC , CM000663.2:g.215675695_215675698delinsTCAC GRCh38
NC_000001.10:g.215849037_215849040delinsTCAC , CM000663.1:g.215849037_215849040delinsTCAC GRCh37
NC_000001.9:g.213915660_213915663delinsTCAC NCBI36
NG_009497.1:g.752699_752702delinsGTGA
NG_009497.2:g.752751_752754delinsGTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-82_12295-79delinsGTGA MANE Select ENSP00000305941.3:n.12295-82_12295-79delinsGTGA
ENST00000674083.1:c.12295-82_12295-79delinsGTGA ENSP00000501296.1:n.12295-82_12295-79delinsGTGA
ENST00000307340.7:c.12295-82_12295-79delinsGTGA ENSP00000305941.3:n.12295-82_12295-79delinsGTGA
NM_206933.2:c.12295-82_12295-79delinsGTGA NP_996816.2:n.12295-82_12295-79delinsGTGA
NM_206933.3:c.12295-82_12295-79delinsGTGA NP_996816.2:n.12295-82_12295-79delinsGTGA
NM_206933.4:c.12295-82_12295-79delinsGTGA MANE Select NP_996816.3:n.12295-82_12295-79delinsGTGA
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