Canonical Allele Identifier: CA1220432957
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1662778412
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215813921_215813922insTTTTCAAGATTTTAAAG , CM000663.2:g.215813921_215813922insTTTTCAAGATTTTAAAG GRCh38
NC_000001.10:g.215987263_215987264insTTTTCAAGATTTTAAAG , CM000663.1:g.215987263_215987264insTTTTCAAGATTTTAAAG GRCh37
NC_000001.9:g.214053886_214053887insTTTTCAAGATTTTAAAG NCBI36
NG_009497.1:g.614475_614476insCTTTAAAATCTTGAAAA
NG_009497.2:g.614527_614528insCTTTAAAATCTTGAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9571-18_9571-17insCTTTAAAATCTTGAAAA MANE Select ENSP00000305941.3:n.9571-18_9571-17insCTTTAAAATCTTGAAAA
ENST00000674083.1:c.9571-18_9571-17insCTTTAAAATCTTGAAAA ENSP00000501296.1:n.9571-18_9571-17insCTTTAAAATCTTGAAAA
ENST00000307340.7:c.9571-18_9571-17insCTTTAAAATCTTGAAAA ENSP00000305941.3:n.9571-18_9571-17insCTTTAAAATCTTGAAAA
NM_206933.2:c.9571-18_9571-17insCTTTAAAATCTTGAAAA NP_996816.2:n.9571-18_9571-17insCTTTAAAATCTTGAAAA
NM_206933.3:c.9571-18_9571-17insCTTTAAAATCTTGAAAA NP_996816.2:n.9571-18_9571-17insCTTTAAAATCTTGAAAA
NM_206933.4:c.9571-18_9571-17insCTTTAAAATCTTGAAAA MANE Select NP_996816.3:n.9571-18_9571-17insCTTTAAAATCTTGAAAA
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