Canonical Allele Identifier: CA1220396666
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728582_215728596delinsGACACACACACACAC , CM000663.2:g.215728582_215728596delinsGACACACACACACAC GRCh38
NC_000001.10:g.215901924_215901938delinsGACACACACACACAC , CM000663.1:g.215901924_215901938delinsGACACACACACACAC GRCh37
NC_000001.9:g.213968547_213968561delinsGACACACACACACAC NCBI36
NG_009497.1:g.699801_699815delinsGTGTGTGTGTGTGTC
NG_009497.2:g.699853_699867delinsGTGTGTGTGTGTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-212_11712-198delinsGTGTGTGTGTGTGTC MANE Select ENSP00000305941.3:n.11712-212_11712-198delinsGTGTGTGTGTGTGTC
ENST00000674083.1:c.11712-212_11712-198delinsGTGTGTGTGTGTGTC ENSP00000501296.1:n.11712-212_11712-198delinsGTGTGTGTGTGTGTC
ENST00000307340.7:c.11712-212_11712-198delinsGTGTGTGTGTGTGTC ENSP00000305941.3:n.11712-212_11712-198delinsGTGTGTGTGTGTGTC
NM_206933.2:c.11712-212_11712-198delinsGTGTGTGTGTGTGTC NP_996816.2:n.11712-212_11712-198delinsGTGTGTGTGTGTGTC
NM_206933.3:c.11712-212_11712-198delinsGTGTGTGTGTGTGTC NP_996816.2:n.11712-212_11712-198delinsGTGTGTGTGTGTGTC
NM_206933.4:c.11712-212_11712-198delinsGTGTGTGTGTGTGTC MANE Select NP_996816.3:n.11712-212_11712-198delinsGTGTGTGTGTGTGTC
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