Canonical Allele Identifier: CA2960553065
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215934586del , CM000663.2:g.215934586del GRCh38
NC_000001.10:g.216107928del , CM000663.1:g.216107928del GRCh37
NC_000001.9:g.214174551del NCBI36
NG_009497.1:g.493814del
NG_009497.2:g.493866del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7300+33del MANE Select ENSP00000305941.3:n.7300+33del
ENST00000674083.1:c.7300+33del ENSP00000501296.1:n.7300+33del
ENST00000307340.7:c.7300+33del ENSP00000305941.3:n.7300+33del
NM_206933.2:c.7300+33del NP_996816.2:n.7300+33del
NM_206933.3:c.7300+33del NP_996816.2:n.7300+33del
NM_206933.4:c.7300+33del MANE Select NP_996816.3:n.7300+33del