Canonical Allele Identifier: CA1220359708
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640630_215640631delinsAC , CM000663.2:g.215640630_215640631delinsAC GRCh38
NC_000001.10:g.215813972_215813973delinsAC , CM000663.1:g.215813972_215813973delinsAC GRCh37
NC_000001.9:g.213880595_213880596delinsAC NCBI36
NG_009497.1:g.787766_787767delinsGT
NG_009497.2:g.787818_787819delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14895_14896delinsGT MANE Select ENSP00000305941.3:p.Val4965=
ENST00000674083.1:c.14895_14896delinsGT ENSP00000501296.1:p.Val4965=
ENST00000307340.7:c.14895_14896delinsGT ENSP00000305941.3:p.Val4965=
NM_206933.2:c.14895_14896delinsGT NP_996816.2:p.Val4965=
NM_206933.3:c.14895_14896delinsGT NP_996816.2:p.Val4965=
NM_206933.4:c.14895_14896delinsGT MANE Select NP_996816.3:p.Val4965=
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