Canonical Allele Identifier: CA1220434286

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215816985_215816986delinsGA , CM000663.2:g.215816985_215816986delinsGA	GRCh38
NC_000001.10:g.215990327_215990328delinsGA , CM000663.1:g.215990327_215990328delinsGA	GRCh37
NC_000001.9:g.214056950_214056951delinsGA	NCBI36
NG_009497.1:g.611411_611412delinsTC
NG_009497.2:g.611463_611464delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9570+11_9570+12delinsTC MANE Select	ENSP00000305941.3:n.9570+11_9570+12delinsTC
ENST00000674083.1:c.9570+11_9570+12delinsTC	ENSP00000501296.1:n.9570+11_9570+12delinsTC
ENST00000307340.7:c.9570+11_9570+12delinsTC	ENSP00000305941.3:n.9570+11_9570+12delinsTC
NM_206933.2:c.9570+11_9570+12delinsTC	NP_996816.2:n.9570+11_9570+12delinsTC
NM_206933.3:c.9570+11_9570+12delinsTC	NP_996816.2:n.9570+11_9570+12delinsTC
NM_206933.4:c.9570+11_9570+12delinsTC MANE Select	NP_996816.3:n.9570+11_9570+12delinsTC