Canonical Allele Identifier: CA1220455770
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867295_215867296delinsCT , CM000663.2:g.215867295_215867296delinsCT GRCh38
NC_000001.10:g.216040637_216040638delinsCT , CM000663.1:g.216040637_216040638delinsCT GRCh37
NC_000001.9:g.214107260_214107261delinsCT NCBI36
NG_009497.1:g.561101_561102delinsAG
NG_009497.2:g.561153_561154delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-126_8682-125delinsAG MANE Select ENSP00000305941.3:n.8682-126_8682-125delinsAG
ENST00000674083.1:c.8682-126_8682-125delinsAG ENSP00000501296.1:n.8682-126_8682-125delinsAG
ENST00000307340.7:c.8682-126_8682-125delinsAG ENSP00000305941.3:n.8682-126_8682-125delinsAG
NM_206933.2:c.8682-126_8682-125delinsAG NP_996816.2:n.8682-126_8682-125delinsAG
NM_206933.3:c.8682-126_8682-125delinsAG NP_996816.2:n.8682-126_8682-125delinsAG
NM_206933.4:c.8682-126_8682-125delinsAG MANE Select NP_996816.3:n.8682-126_8682-125delinsAG
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