Canonical Allele Identifier: CA1220455748
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867245_215867246delinsTC , CM000663.2:g.215867245_215867246delinsTC GRCh38
NC_000001.10:g.216040587_216040588delinsTC , CM000663.1:g.216040587_216040588delinsTC GRCh37
NC_000001.9:g.214107210_214107211delinsTC NCBI36
NG_009497.1:g.561151_561152delinsGA
NG_009497.2:g.561203_561204delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-76_8682-75delinsGA MANE Select ENSP00000305941.3:n.8682-76_8682-75delinsGA
ENST00000674083.1:c.8682-76_8682-75delinsGA ENSP00000501296.1:n.8682-76_8682-75delinsGA
ENST00000307340.7:c.8682-76_8682-75delinsGA ENSP00000305941.3:n.8682-76_8682-75delinsGA
NM_206933.2:c.8682-76_8682-75delinsGA NP_996816.2:n.8682-76_8682-75delinsGA
NM_206933.3:c.8682-76_8682-75delinsGA NP_996816.2:n.8682-76_8682-75delinsGA
NM_206933.4:c.8682-76_8682-75delinsGA MANE Select NP_996816.3:n.8682-76_8682-75delinsGA
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