Canonical Allele Identifier: CA1220434400

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817269_215817270delinsAG , CM000663.2:g.215817269_215817270delinsAG	GRCh38
NC_000001.10:g.215990611_215990612delinsAG , CM000663.1:g.215990611_215990612delinsAG	GRCh37
NC_000001.9:g.214057234_214057235delinsAG	NCBI36
NG_009497.1:g.611127_611128delinsCT
NG_009497.2:g.611179_611180delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-75_9372-74delinsCT MANE Select	ENSP00000305941.3:n.9372-75_9372-74delinsCT
ENST00000674083.1:c.9372-75_9372-74delinsCT	ENSP00000501296.1:n.9372-75_9372-74delinsCT
ENST00000307340.7:c.9372-75_9372-74delinsCT	ENSP00000305941.3:n.9372-75_9372-74delinsCT
NM_206933.2:c.9372-75_9372-74delinsCT	NP_996816.2:n.9372-75_9372-74delinsCT
NM_206933.3:c.9372-75_9372-74delinsCT	NP_996816.2:n.9372-75_9372-74delinsCT
NM_206933.4:c.9372-75_9372-74delinsCT MANE Select	NP_996816.3:n.9372-75_9372-74delinsCT