Canonical Allele Identifier: CA1220416369

Gene: USH2A

Linked Data

• dbSNP Id: rs1661650692

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215781830del , CM000663.2:g.215781830del	GRCh38
NC_000001.10:g.215955172del , CM000663.1:g.215955172del	GRCh37
NC_000001.9:g.214021795del	NCBI36
NG_009497.1:g.646568del
NG_009497.2:g.646620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10740+213del MANE Select	ENSP00000305941.3:n.10740+213del
ENST00000674083.1:c.10740+213del	ENSP00000501296.1:n.10740+213del
ENST00000307340.7:c.10740+213del	ENSP00000305941.3:n.10740+213del
NM_206933.2:c.10740+213del	NP_996816.2:n.10740+213del
NM_206933.3:c.10740+213del	NP_996816.2:n.10740+213del
NM_206933.4:c.10740+213del MANE Select	NP_996816.3:n.10740+213del