Canonical Allele Identifier: CA731446559

Gene: USH2A

Linked Data

• ClinVar Variation Id: 801620
• ClinVar RCV Id: RCV000986549 ; RCV001858648
• dbSNP Id: rs1415157305
• MyVariant Identifiers: chr1:g.216497510_216497511insTGGAAAGCTGAAGACA (hg19) ; chr1:g.216324168_216324169insTGGAAAGCTGAAGACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324169_216324184dup , CM000663.2:g.216324169_216324184dup	GRCh38
NC_000001.10:g.216497511_216497526dup , CM000663.1:g.216497511_216497526dup	GRCh37
NC_000001.9:g.214564134_214564149dup	NCBI36
NG_009497.1:g.104213_104228dup
NG_009497.2:g.104265_104280dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1312_1327dup MANE Select	ENSP00000305941.3:p.Asn443MetfsTer18
ENST00000674083.1:c.1312_1327dup	ENSP00000501296.1:p.Asn443MetfsTer18
ENST00000307340.7:c.1312_1327dup	ENSP00000305941.3:p.Asn443MetfsTer18
ENST00000366942.3:c.1312_1327dup	ENSP00000355909.3:p.Asn443MetfsTer18
NM_007123.5:c.1312_1327dup	NP_009054.5:p.Asn443MetfsTer18
NM_206933.2:c.1312_1327dup	NP_996816.2:p.Asn443MetfsTer18
NM_206933.3:c.1312_1327dup	NP_996816.2:p.Asn443MetfsTer18
NM_007123.6:c.1312_1327dup	NP_009054.6:p.Asn443MetfsTer18
NM_206933.4:c.1312_1327dup MANE Select	NP_996816.3:p.Asn443MetfsTer18