Canonical Allele Identifier: CA2747716441

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640791_215640792insACAC , CM000663.2:g.215640791_215640792insACAC	GRCh38
NC_000001.10:g.215814133_215814134insACAC , CM000663.1:g.215814133_215814134insACAC	GRCh37
NC_000001.9:g.213880756_213880757insACAC	NCBI36
NG_009497.1:g.787605_787606insGTGT
NG_009497.2:g.787657_787658insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-58_14792-57insGTGT MANE Select	ENSP00000305941.3:n.14792-58_14792-57insGTGT
ENST00000674083.1:c.14792-58_14792-57insGTGT	ENSP00000501296.1:n.14792-58_14792-57insGTGT
ENST00000307340.7:c.14792-58_14792-57insGTGT	ENSP00000305941.3:n.14792-58_14792-57insGTGT
NM_206933.2:c.14792-58_14792-57insGTGT	NP_996816.2:n.14792-58_14792-57insGTGT
NM_206933.3:c.14792-58_14792-57insGTGT	NP_996816.2:n.14792-58_14792-57insGTGT
NM_206933.4:c.14792-58_14792-57insGTGT MANE Select	NP_996816.3:n.14792-58_14792-57insGTGT