Canonical Allele Identifier: CA1220372148
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671079_215671094delinsGTCTTCTGTATAATTC , CM000663.2:g.215671079_215671094delinsGTCTTCTGTATAATTC GRCh38
NC_000001.10:g.215844421_215844436delinsGTCTTCTGTATAATTC , CM000663.1:g.215844421_215844436delinsGTCTTCTGTATAATTC GRCh37
NC_000001.9:g.213911044_213911059delinsGTCTTCTGTATAATTC NCBI36
NG_009497.1:g.757303_757318delinsGAATTATACAGAAGAC
NG_009497.2:g.757355_757370delinsGAATTATACAGAAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14011_14026delinsGAATTATACAGAAGAC MANE Select ENSP00000305941.3:p.Glu4671=
ENST00000674083.1:c.14011_14026delinsGAATTATACAGAAGAC ENSP00000501296.1:p.Glu4671=
ENST00000307340.7:c.14011_14026delinsGAATTATACAGAAGAC ENSP00000305941.3:p.Glu4671=
NM_206933.2:c.14011_14026delinsGAATTATACAGAAGAC NP_996816.2:p.Glu4671=
NM_206933.3:c.14011_14026delinsGAATTATACAGAAGAC NP_996816.2:p.Glu4671=
NM_206933.4:c.14011_14026delinsGAATTATACAGAAGAC MANE Select NP_996816.3:p.Glu4671=
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