Canonical Allele Identifier: CA1392915

Gene: USH2A

Linked Data

• dbSNP Id: rs770859989
• ExAC: 1:215814090 GTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCAC / G
• gnomAD v2: 1-215814090-GTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCAC-G
• gnomAD v4: 1-215640748-GTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCAC-G
• MyVariant Identifiers: chr1:g.215814091_215814139del (hg19) ; chr1:g.215640749_215640797del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640751_215640799del , CM000663.2:g.215640751_215640799del	GRCh38
NC_000001.10:g.215814093_215814141del , CM000663.1:g.215814093_215814141del	GRCh37
NC_000001.9:g.213880716_213880764del	NCBI36
NG_009497.1:g.787600_787648del
NG_009497.2:g.787652_787700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-63_14792-15del MANE Select	ENSP00000305941.3:n.14792-63_14792-15del
ENST00000674083.1:c.14792-63_14792-15del	ENSP00000501296.1:n.14792-63_14792-15del
ENST00000307340.7:c.14792-63_14792-15del	ENSP00000305941.3:n.14792-63_14792-15del
NM_206933.2:c.14792-63_14792-15del	NP_996816.2:n.14792-63_14792-15del
NM_206933.3:c.14792-63_14792-15del	NP_996816.2:n.14792-63_14792-15del
NM_206933.4:c.14792-63_14792-15del MANE Select	NP_996816.3:n.14792-63_14792-15del