Canonical Allele Identifier: CA1220434430

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817313_215817315delinsTTA , CM000663.2:g.215817313_215817315delinsTTA	GRCh38
NC_000001.10:g.215990655_215990657delinsTTA , CM000663.1:g.215990655_215990657delinsTTA	GRCh37
NC_000001.9:g.214057278_214057280delinsTTA	NCBI36
NG_009497.1:g.611082_611084delinsTAA
NG_009497.2:g.611134_611136delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-120_9372-118delinsTAA MANE Select	ENSP00000305941.3:n.9372-120_9372-118delinsTAA
ENST00000674083.1:c.9372-120_9372-118delinsTAA	ENSP00000501296.1:n.9372-120_9372-118delinsTAA
ENST00000307340.7:c.9372-120_9372-118delinsTAA	ENSP00000305941.3:n.9372-120_9372-118delinsTAA
NM_206933.2:c.9372-120_9372-118delinsTAA	NP_996816.2:n.9372-120_9372-118delinsTAA
NM_206933.3:c.9372-120_9372-118delinsTAA	NP_996816.2:n.9372-120_9372-118delinsTAA
NM_206933.4:c.9372-120_9372-118delinsTAA MANE Select	NP_996816.3:n.9372-120_9372-118delinsTAA