Canonical Allele Identifier: CA1220396461
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728025_215728027delinsCTT , CM000663.2:g.215728025_215728027delinsCTT GRCh38
NC_000001.10:g.215901367_215901369delinsCTT , CM000663.1:g.215901367_215901369delinsCTT GRCh37
NC_000001.9:g.213967990_213967992delinsCTT NCBI36
NG_009497.1:g.700370_700372delinsAAG
NG_009497.2:g.700422_700424delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12066+3_12066+5delinsAAG MANE Select ENSP00000305941.3:n.12066+3_12066+5delinsAAG
ENST00000674083.1:c.12066+3_12066+5delinsAAG ENSP00000501296.1:n.12066+3_12066+5delinsAAG
ENST00000307340.7:c.12066+3_12066+5delinsAAG ENSP00000305941.3:n.12066+3_12066+5delinsAAG
NM_206933.2:c.12066+3_12066+5delinsAAG NP_996816.2:n.12066+3_12066+5delinsAAG
NM_206933.3:c.12066+3_12066+5delinsAAG NP_996816.2:n.12066+3_12066+5delinsAAG
NM_206933.4:c.12066+3_12066+5delinsAAG MANE Select NP_996816.3:n.12066+3_12066+5delinsAAG
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