Canonical Allele Identifier: CA1220455762
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867276_215867277delinsCT , CM000663.2:g.215867276_215867277delinsCT GRCh38
NC_000001.10:g.216040618_216040619delinsCT , CM000663.1:g.216040618_216040619delinsCT GRCh37
NC_000001.9:g.214107241_214107242delinsCT NCBI36
NG_009497.1:g.561120_561121delinsAG
NG_009497.2:g.561172_561173delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-107_8682-106delinsAG MANE Select ENSP00000305941.3:n.8682-107_8682-106delinsAG
ENST00000674083.1:c.8682-107_8682-106delinsAG ENSP00000501296.1:n.8682-107_8682-106delinsAG
ENST00000307340.7:c.8682-107_8682-106delinsAG ENSP00000305941.3:n.8682-107_8682-106delinsAG
NM_206933.2:c.8682-107_8682-106delinsAG NP_996816.2:n.8682-107_8682-106delinsAG
NM_206933.3:c.8682-107_8682-106delinsAG NP_996816.2:n.8682-107_8682-106delinsAG
NM_206933.4:c.8682-107_8682-106delinsAG MANE Select NP_996816.3:n.8682-107_8682-106delinsAG
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