Canonical Allele Identifier: CA2747720850
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215780161_215780163del , CM000663.2:g.215780161_215780163del GRCh38
NC_000001.10:g.215953503_215953505del , CM000663.1:g.215953503_215953505del GRCh37
NC_000001.9:g.214020126_214020128del NCBI36
NG_009497.1:g.648234_648236del
NG_009497.2:g.648286_648288del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10741-122_10741-120del MANE Select ENSP00000305941.3:n.10741-122_10741-120del
ENST00000674083.1:c.10741-122_10741-120del ENSP00000501296.1:n.10741-122_10741-120del
ENST00000307340.7:c.10741-122_10741-120del ENSP00000305941.3:n.10741-122_10741-120del
NM_206933.2:c.10741-122_10741-120del NP_996816.2:n.10741-122_10741-120del
NM_206933.3:c.10741-122_10741-120del NP_996816.2:n.10741-122_10741-120del
NM_206933.4:c.10741-122_10741-120del MANE Select NP_996816.3:n.10741-122_10741-120del