Canonical Allele Identifier: CA1220598594
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216199889_216199891delinsAAT , CM000663.2:g.216199889_216199891delinsAAT GRCh38
NC_000001.10:g.216373231_216373233delinsAAT , CM000663.1:g.216373231_216373233delinsAAT GRCh37
NC_000001.9:g.214439854_214439856delinsAAT NCBI36
NG_009497.1:g.228506_228508delinsATT
NG_009497.2:g.228558_228560delinsATT

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.3547_3549delinsATT (USH2A) MANE Select ENSP00000305941.3:p.Ile1183=
ENST00000674083.1:c.3547_3549delinsATT (USH2A) ENSP00000501296.1:p.Ile1183=
ENST00000307340.7:c.3547_3549delinsATT (USH2A) ENSP00000305941.3:p.Ile1183=
ENST00000366942.3:c.3547_3549delinsATT (USH2A) ENSP00000355909.3:p.Ile1183=
NM_007123.5:c.3547_3549delinsATT (USH2A) NP_009054.5:p.Ile1183=
NM_206933.2:c.3547_3549delinsATT (USH2A) NP_996816.2:p.Ile1183=
XR_922595.1:n.354+3964_354+3966delinsAAT (USH2A-AS1)
XR_922596.1:n.354+3964_354+3966delinsAAT (USH2A-AS1)
XR_922597.1:n.354+3964_354+3966delinsAAT (USH2A-AS1)
XR_922598.1:n.484+3964_484+3966delinsAAT (USH2A-AS1)
XR_922595.3:n.1076+3964_1076+3966delinsAAT (USH2A-AS1)
XR_922596.3:n.1076+3964_1076+3966delinsAAT (USH2A-AS1)
NM_206933.3:c.3547_3549delinsATT (USH2A) NP_996816.2:p.Ile1183=
NM_007123.6:c.3547_3549delinsATT (USH2A) NP_009054.6:p.Ile1183=
NM_206933.4:c.3547_3549delinsATT (USH2A) MANE Select NP_996816.3:p.Ile1183=
Search 100 bp 5'
Search 100 bp 3'