Canonical Allele Identifier: CA1220434410

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817287_215817289delinsTAA , CM000663.2:g.215817287_215817289delinsTAA	GRCh38
NC_000001.10:g.215990629_215990631delinsTAA , CM000663.1:g.215990629_215990631delinsTAA	GRCh37
NC_000001.9:g.214057252_214057254delinsTAA	NCBI36
NG_009497.1:g.611108_611110delinsTTA
NG_009497.2:g.611160_611162delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-94_9372-92delinsTTA MANE Select	ENSP00000305941.3:n.9372-94_9372-92delinsTTA
ENST00000674083.1:c.9372-94_9372-92delinsTTA	ENSP00000501296.1:n.9372-94_9372-92delinsTTA
ENST00000307340.7:c.9372-94_9372-92delinsTTA	ENSP00000305941.3:n.9372-94_9372-92delinsTTA
NM_206933.2:c.9372-94_9372-92delinsTTA	NP_996816.2:n.9372-94_9372-92delinsTTA
NM_206933.3:c.9372-94_9372-92delinsTTA	NP_996816.2:n.9372-94_9372-92delinsTTA
NM_206933.4:c.9372-94_9372-92delinsTTA MANE Select	NP_996816.3:n.9372-94_9372-92delinsTTA