Canonical Allele Identifier: CA2650498147
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215640828-ACCG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640829_215640831del , CM000663.2:g.215640829_215640831del GRCh38
NC_000001.10:g.215814171_215814173del , CM000663.1:g.215814171_215814173del GRCh37
NC_000001.9:g.213880794_213880796del NCBI36
NG_009497.1:g.787566_787568del
NG_009497.2:g.787618_787620del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-97_14792-95del MANE Select ENSP00000305941.3:n.14792-97_14792-95del
ENST00000674083.1:c.14792-97_14792-95del ENSP00000501296.1:n.14792-97_14792-95del
ENST00000307340.7:c.14792-97_14792-95del ENSP00000305941.3:n.14792-97_14792-95del
NM_206933.2:c.14792-97_14792-95del NP_996816.2:n.14792-97_14792-95del
NM_206933.3:c.14792-97_14792-95del NP_996816.2:n.14792-97_14792-95del
NM_206933.4:c.14792-97_14792-95del MANE Select NP_996816.3:n.14792-97_14792-95del
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