Canonical Allele Identifier: CA1148224960
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674537_215674538delinsTT , CM000663.2:g.215674537_215674538delinsTT GRCh38
NC_000001.10:g.215847879_215847880delinsTT , CM000663.1:g.215847879_215847880delinsTT GRCh37
NC_000001.9:g.213914502_213914503delinsTT NCBI36
NG_009497.1:g.753859_753860delinsAA
NG_009497.2:g.753911_753912delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13373_13374delinsAA MANE Select ENSP00000305941.3:p.Glu4458=
ENST00000674083.1:c.13373_13374delinsAA ENSP00000501296.1:p.Glu4458=
ENST00000307340.7:c.13373_13374delinsAA ENSP00000305941.3:p.Glu4458=
NM_206933.2:c.13373_13374delinsAA NP_996816.2:p.Glu4458=
NM_206933.3:c.13373_13374delinsAA NP_996816.2:p.Glu4458=
NM_206933.4:c.13373_13374delinsAA MANE Select NP_996816.3:p.Glu4458=
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