Canonical Allele Identifier: CA2747719138
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728494_215728495insACA , CM000663.2:g.215728494_215728495insACA GRCh38
NC_000001.10:g.215901836_215901837insACA , CM000663.1:g.215901836_215901837insACA GRCh37
NC_000001.9:g.213968459_213968460insACA NCBI36
NG_009497.1:g.699902_699903insTGT
NG_009497.2:g.699954_699955insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-111_11712-110insTGT MANE Select ENSP00000305941.3:n.11712-111_11712-110insTGT
ENST00000674083.1:c.11712-111_11712-110insTGT ENSP00000501296.1:n.11712-111_11712-110insTGT
ENST00000307340.7:c.11712-111_11712-110insTGT ENSP00000305941.3:n.11712-111_11712-110insTGT
NM_206933.2:c.11712-111_11712-110insTGT NP_996816.2:n.11712-111_11712-110insTGT
NM_206933.3:c.11712-111_11712-110insTGT NP_996816.2:n.11712-111_11712-110insTGT
NM_206933.4:c.11712-111_11712-110insTGT MANE Select NP_996816.3:n.11712-111_11712-110insTGT
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