Canonical Allele Identifier: CA1220374023
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675672_215675676delinsGTTAC , CM000663.2:g.215675672_215675676delinsGTTAC GRCh38
NC_000001.10:g.215849014_215849018delinsGTTAC , CM000663.1:g.215849014_215849018delinsGTTAC GRCh37
NC_000001.9:g.213915637_213915641delinsGTTAC NCBI36
NG_009497.1:g.752721_752725delinsGTAAC
NG_009497.2:g.752773_752777delinsGTAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-60_12295-56delinsGTAAC MANE Select ENSP00000305941.3:n.12295-60_12295-56delinsGTAAC
ENST00000674083.1:c.12295-60_12295-56delinsGTAAC ENSP00000501296.1:n.12295-60_12295-56delinsGTAAC
ENST00000307340.7:c.12295-60_12295-56delinsGTAAC ENSP00000305941.3:n.12295-60_12295-56delinsGTAAC
NM_206933.2:c.12295-60_12295-56delinsGTAAC NP_996816.2:n.12295-60_12295-56delinsGTAAC
NM_206933.3:c.12295-60_12295-56delinsGTAAC NP_996816.2:n.12295-60_12295-56delinsGTAAC
NM_206933.4:c.12295-60_12295-56delinsGTAAC MANE Select NP_996816.3:n.12295-60_12295-56delinsGTAAC
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