Canonical Allele Identifier: CA2513822778
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247028_216247030del , CM000663.2:g.216247028_216247030del GRCh38
NC_000001.10:g.216420370_216420372del , CM000663.1:g.216420370_216420372del GRCh37
NC_000001.9:g.214486993_214486995del NCBI36
NG_009497.1:g.181367_181369del
NG_009497.2:g.181419_181421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2364_2366del MANE Select ENSP00000305941.3:p.Val789del
ENST00000674083.1:c.2364_2366del ENSP00000501296.1:p.Val789del
ENST00000307340.7:c.2364_2366del ENSP00000305941.3:p.Val789del
ENST00000366942.3:c.2364_2366del ENSP00000355909.3:p.Val789del
NM_007123.5:c.2364_2366del NP_009054.5:p.Val789del
NM_206933.2:c.2364_2366del NP_996816.2:p.Val789del
NM_206933.3:c.2364_2366del NP_996816.2:p.Val789del
NM_007123.6:c.2364_2366del NP_009054.6:p.Val789del
NM_206933.4:c.2364_2366del MANE Select NP_996816.3:p.Val789del
Search 100 bp 5'
Search 100 bp 3'