Canonical Allele Identifier: CA2747717735
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675694_215675695insAG , CM000663.2:g.215675694_215675695insAG GRCh38
NC_000001.10:g.215849036_215849037insAG , CM000663.1:g.215849036_215849037insAG GRCh37
NC_000001.9:g.213915659_213915660insAG NCBI36
NG_009497.1:g.752702_752703insCT
NG_009497.2:g.752754_752755insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-79_12295-78insCT MANE Select ENSP00000305941.3:n.12295-79_12295-78insCT
ENST00000674083.1:c.12295-79_12295-78insCT ENSP00000501296.1:n.12295-79_12295-78insCT
ENST00000307340.7:c.12295-79_12295-78insCT ENSP00000305941.3:n.12295-79_12295-78insCT
NM_206933.2:c.12295-79_12295-78insCT NP_996816.2:n.12295-79_12295-78insCT
NM_206933.3:c.12295-79_12295-78insCT NP_996816.2:n.12295-79_12295-78insCT
NM_206933.4:c.12295-79_12295-78insCT MANE Select NP_996816.3:n.12295-79_12295-78insCT
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