Canonical Allele Identifier: CA2547613001
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675305_215675306del , CM000663.2:g.215675305_215675306del GRCh38
NC_000001.10:g.215848647_215848648del , CM000663.1:g.215848647_215848648del GRCh37
NC_000001.9:g.213915270_213915271del NCBI36
NG_009497.1:g.753091_753092del
NG_009497.2:g.753143_753144del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12605_12606del MANE Select ENSP00000305941.3:p.Asn4202ThrfsTer15
ENST00000674083.1:c.12605_12606del ENSP00000501296.1:p.Asn4202ThrfsTer15
ENST00000307340.7:c.12605_12606del ENSP00000305941.3:p.Asn4202ThrfsTer15
NM_206933.2:c.12605_12606del NP_996816.2:p.Asn4202ThrfsTer15
NM_206933.3:c.12605_12606del NP_996816.2:p.Asn4202ThrfsTer15
NM_206933.4:c.12605_12606del MANE Select NP_996816.3:p.Asn4202ThrfsTer15
Search 100 bp 5'
Search 100 bp 3'