Canonical Allele Identifier: CA1012196113

Gene: USH2A

Linked Data

• dbSNP Id: rs1662778358
• gnomAD v3: 1-215813920-C-CATTTTCA
• gnomAD v4: 1-215813920-C-CATTTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215813921_215813922insTTTTCAA , CM000663.2:g.215813921_215813922insTTTTCAA	GRCh38
NC_000001.10:g.215987263_215987264insTTTTCAA , CM000663.1:g.215987263_215987264insTTTTCAA	GRCh37
NC_000001.9:g.214053886_214053887insTTTTCAA	NCBI36
NG_009497.1:g.614476_614477insTGAAAAT
NG_009497.2:g.614528_614529insTGAAAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.9571-17_9571-16insTGAAAAT MANE Select	ENSP00000305941.3:n.9571-17_9571-16insTGAAAAT
ENST00000674083.1:c.9571-17_9571-16insTGAAAAT	ENSP00000501296.1:n.9571-17_9571-16insTGAAAAT
ENST00000307340.7:c.9571-17_9571-16insTGAAAAT	ENSP00000305941.3:n.9571-17_9571-16insTGAAAAT
NM_206933.2:c.9571-17_9571-16insTGAAAAT	NP_996816.2:n.9571-17_9571-16insTGAAAAT
NM_206933.3:c.9571-17_9571-16insTGAAAAT	NP_996816.2:n.9571-17_9571-16insTGAAAAT
NM_206933.4:c.9571-17_9571-16insTGAAAAT MANE Select	NP_996816.3:n.9571-17_9571-16insTGAAAAT