Canonical Allele Identifier: CA1220416658
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782061_215782062delinsCC , CM000663.2:g.215782061_215782062delinsCC GRCh38
NC_000001.10:g.215955403_215955404delinsCC , CM000663.1:g.215955403_215955404delinsCC GRCh37
NC_000001.9:g.214022026_214022027delinsCC NCBI36
NG_009497.1:g.646335_646336delinsGG
NG_009497.2:g.646387_646388delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10720_10721delinsGG MANE Select ENSP00000305941.3:p.Gly3574=
ENST00000674083.1:c.10720_10721delinsGG ENSP00000501296.1:p.Gly3574=
ENST00000307340.7:c.10720_10721delinsGG ENSP00000305941.3:p.Gly3574=
NM_206933.2:c.10720_10721delinsGG NP_996816.2:p.Gly3574=
NM_206933.3:c.10720_10721delinsGG NP_996816.2:p.Gly3574=
NM_206933.4:c.10720_10721delinsGG MANE Select NP_996816.3:p.Gly3574=
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