Canonical Allele Identifier: CA1012189618

Gene: USH2A

Linked Data

• dbSNP Id: rs1661666462
• gnomAD v3: 1-215782319-CTATTA-C
• gnomAD v4: 1-215782319-CTATTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782324_215782328del , CM000663.2:g.215782324_215782328del	GRCh38
NC_000001.10:g.215955666_215955670del , CM000663.1:g.215955666_215955670del	GRCh37
NC_000001.9:g.214022289_214022293del	NCBI36
NG_009497.1:g.646073_646077del
NG_009497.2:g.646125_646129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-128_10586-124del MANE Select	ENSP00000305941.3:n.10586-128_10586-124del
ENST00000674083.1:c.10586-128_10586-124del	ENSP00000501296.1:n.10586-128_10586-124del
ENST00000307340.7:c.10586-128_10586-124del	ENSP00000305941.3:n.10586-128_10586-124del
NM_206933.2:c.10586-128_10586-124del	NP_996816.2:n.10586-128_10586-124del
NM_206933.3:c.10586-128_10586-124del	NP_996816.2:n.10586-128_10586-124del
NM_206933.4:c.10586-128_10586-124del MANE Select	NP_996816.3:n.10586-128_10586-124del