Canonical Allele Identifier: CA1220396620
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728458_215728459delinsAT , CM000663.2:g.215728458_215728459delinsAT GRCh38
NC_000001.10:g.215901800_215901801delinsAT , CM000663.1:g.215901800_215901801delinsAT GRCh37
NC_000001.9:g.213968423_213968424delinsAT NCBI36
NG_009497.1:g.699938_699939delinsAT
NG_009497.2:g.699990_699991delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-75_11712-74delinsAT MANE Select ENSP00000305941.3:n.11712-75_11712-74delinsAT
ENST00000674083.1:c.11712-75_11712-74delinsAT ENSP00000501296.1:n.11712-75_11712-74delinsAT
ENST00000307340.7:c.11712-75_11712-74delinsAT ENSP00000305941.3:n.11712-75_11712-74delinsAT
NM_206933.2:c.11712-75_11712-74delinsAT NP_996816.2:n.11712-75_11712-74delinsAT
NM_206933.3:c.11712-75_11712-74delinsAT NP_996816.2:n.11712-75_11712-74delinsAT
NM_206933.4:c.11712-75_11712-74delinsAT MANE Select NP_996816.3:n.11712-75_11712-74delinsAT
Search 100 bp 5'
Search 100 bp 3'