Canonical Allele Identifier: CA2747717666
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675563_215675568del , CM000663.2:g.215675563_215675568del GRCh38
NC_000001.10:g.215848905_215848910del , CM000663.1:g.215848905_215848910del GRCh37
NC_000001.9:g.213915528_213915533del NCBI36
NG_009497.1:g.752829_752834del
NG_009497.2:g.752881_752886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12343_12348del MANE Select ENSP00000305941.3:p.Arg4115_Gln4116del
ENST00000674083.1:c.12343_12348del ENSP00000501296.1:p.Arg4115_Gln4116del
ENST00000307340.7:c.12343_12348del ENSP00000305941.3:p.Arg4115_Gln4116del
NM_206933.2:c.12343_12348del NP_996816.2:p.Arg4115_Gln4116del
NM_206933.3:c.12343_12348del NP_996816.2:p.Arg4115_Gln4116del
NM_206933.4:c.12343_12348del MANE Select NP_996816.3:p.Arg4115_Gln4116del
Search 100 bp 5'
Search 100 bp 3'