Canonical Allele Identifier: CA2650499660

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640848-A-ATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640848_215640849insTTG , CM000663.2:g.215640848_215640849insTTG	GRCh38
NC_000001.10:g.215814190_215814191insTTG , CM000663.1:g.215814190_215814191insTTG	GRCh37
NC_000001.9:g.213880813_213880814insTTG	NCBI36
NG_009497.1:g.787548_787549insCAA
NG_009497.2:g.787600_787601insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-115_14792-114insCAA MANE Select	ENSP00000305941.3:n.14792-115_14792-114insCAA
ENST00000674083.1:c.14792-115_14792-114insCAA	ENSP00000501296.1:n.14792-115_14792-114insCAA
ENST00000307340.7:c.14792-115_14792-114insCAA	ENSP00000305941.3:n.14792-115_14792-114insCAA
NM_206933.2:c.14792-115_14792-114insCAA	NP_996816.2:n.14792-115_14792-114insCAA
NM_206933.3:c.14792-115_14792-114insCAA	NP_996816.2:n.14792-115_14792-114insCAA
NM_206933.4:c.14792-115_14792-114insCAA MANE Select	NP_996816.3:n.14792-115_14792-114insCAA