Canonical Allele Identifier: CA1220416387

Gene: USH2A

Linked Data

• dbSNP Id: rs1661651362

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215781864del , CM000663.2:g.215781864del	GRCh38
NC_000001.10:g.215955206del , CM000663.1:g.215955206del	GRCh37
NC_000001.9:g.214021829del	NCBI36
NG_009497.1:g.646533del
NG_009497.2:g.646585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10740+178del MANE Select	ENSP00000305941.3:n.10740+178del
ENST00000674083.1:c.10740+178del	ENSP00000501296.1:n.10740+178del
ENST00000307340.7:c.10740+178del	ENSP00000305941.3:n.10740+178del
NM_206933.2:c.10740+178del	NP_996816.2:n.10740+178del
NM_206933.3:c.10740+178del	NP_996816.2:n.10740+178del
NM_206933.4:c.10740+178del MANE Select	NP_996816.3:n.10740+178del