Canonical Allele Identifier: CA1220372161
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671119_215671120delinsCT , CM000663.2:g.215671119_215671120delinsCT GRCh38
NC_000001.10:g.215844461_215844462delinsCT , CM000663.1:g.215844461_215844462delinsCT GRCh37
NC_000001.9:g.213911084_213911085delinsCT NCBI36
NG_009497.1:g.757277_757278delinsAG
NG_009497.2:g.757329_757330delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13985_13986delinsAG MANE Select ENSP00000305941.3:p.Gln4662=
ENST00000674083.1:c.13985_13986delinsAG ENSP00000501296.1:p.Gln4662=
ENST00000307340.7:c.13985_13986delinsAG ENSP00000305941.3:p.Gln4662=
NM_206933.2:c.13985_13986delinsAG NP_996816.2:p.Gln4662=
NM_206933.3:c.13985_13986delinsAG NP_996816.2:p.Gln4662=
NM_206933.4:c.13985_13986delinsAG MANE Select NP_996816.3:p.Gln4662=
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