Canonical Allele Identifier: CA913072741
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215813952_215813974del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640610_215640632del , CM000663.2:g.215640610_215640632del GRCh38
NC_000001.10:g.215813952_215813974del , CM000663.1:g.215813952_215813974del GRCh37
NC_000001.9:g.213880575_213880597del NCBI36
NG_009497.1:g.787765_787787del
NG_009497.2:g.787817_787839del

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.14894_14916del MANE Select ENSP00000305941.3:p.Val4965GlyfsTer28
ENST00000674083.1:c.14894_14916del ENSP00000501296.1:p.Val4965GlyfsTer28
ENST00000307340.7:c.14894_14916del ENSP00000305941.3:p.Val4965GlyfsTer28
NM_206933.2:c.14894_14916del NP_996816.2:p.Val4965GlyfsTer28
NM_206933.3:c.14894_14916del NP_996816.2:p.Val4965GlyfsTer28
NM_206933.4:c.14894_14916del MANE Select NP_996816.3:p.Val4965GlyfsTer28
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