Canonical Allele Identifier: CA2747719093
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728445_215728446insAC , CM000663.2:g.215728445_215728446insAC GRCh38
NC_000001.10:g.215901787_215901788insAC , CM000663.1:g.215901787_215901788insAC GRCh37
NC_000001.9:g.213968410_213968411insAC NCBI36
NG_009497.1:g.699951_699952insGT
NG_009497.2:g.700003_700004insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-62_11712-61insGT MANE Select ENSP00000305941.3:n.11712-62_11712-61insGT
ENST00000674083.1:c.11712-62_11712-61insGT ENSP00000501296.1:n.11712-62_11712-61insGT
ENST00000307340.7:c.11712-62_11712-61insGT ENSP00000305941.3:n.11712-62_11712-61insGT
NM_206933.2:c.11712-62_11712-61insGT NP_996816.2:n.11712-62_11712-61insGT
NM_206933.3:c.11712-62_11712-61insGT NP_996816.2:n.11712-62_11712-61insGT
NM_206933.4:c.11712-62_11712-61insGT MANE Select NP_996816.3:n.11712-62_11712-61insGT
Search 100 bp 5'
Search 100 bp 3'