Canonical Allele Identifier: CA2747719121
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728474_215728480del , CM000663.2:g.215728474_215728480del GRCh38
NC_000001.10:g.215901816_215901822del , CM000663.1:g.215901816_215901822del GRCh37
NC_000001.9:g.213968439_213968445del NCBI36
NG_009497.1:g.699917_699923del
NG_009497.2:g.699969_699975del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-96_11712-90del MANE Select ENSP00000305941.3:n.11712-96_11712-90del
ENST00000674083.1:c.11712-96_11712-90del ENSP00000501296.1:n.11712-96_11712-90del
ENST00000307340.7:c.11712-96_11712-90del ENSP00000305941.3:n.11712-96_11712-90del
NM_206933.2:c.11712-96_11712-90del NP_996816.2:n.11712-96_11712-90del
NM_206933.3:c.11712-96_11712-90del NP_996816.2:n.11712-96_11712-90del
NM_206933.4:c.11712-96_11712-90del MANE Select NP_996816.3:n.11712-96_11712-90del