Canonical Allele Identifier: CA2650499201

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640844-C-CAATAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640846_215640847insTAAAAAAA , CM000663.2:g.215640846_215640847insTAAAAAAA	GRCh38
NC_000001.10:g.215814188_215814189insTAAAAAAA , CM000663.1:g.215814188_215814189insTAAAAAAA	GRCh37
NC_000001.9:g.213880811_213880812insTAAAAAAA	NCBI36
NG_009497.1:g.787552_787553insTTTTTATT
NG_009497.2:g.787604_787605insTTTTTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-111_14792-110insTTTTTATT MANE Select	ENSP00000305941.3:n.14792-111_14792-110insTTTTTATT
ENST00000674083.1:c.14792-111_14792-110insTTTTTATT	ENSP00000501296.1:n.14792-111_14792-110insTTTTTATT
ENST00000307340.7:c.14792-111_14792-110insTTTTTATT	ENSP00000305941.3:n.14792-111_14792-110insTTTTTATT
NM_206933.2:c.14792-111_14792-110insTTTTTATT	NP_996816.2:n.14792-111_14792-110insTTTTTATT
NM_206933.3:c.14792-111_14792-110insTTTTTATT	NP_996816.2:n.14792-111_14792-110insTTTTTATT
NM_206933.4:c.14792-111_14792-110insTTTTTATT MANE Select	NP_996816.3:n.14792-111_14792-110insTTTTTATT