Canonical Allele Identifier: CA2747716434

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640789_215640790insAGAA , CM000663.2:g.215640789_215640790insAGAA	GRCh38
NC_000001.10:g.215814131_215814132insAGAA , CM000663.1:g.215814131_215814132insAGAA	GRCh37
NC_000001.9:g.213880754_213880755insAGAA	NCBI36
NG_009497.1:g.787607_787608insTTCT
NG_009497.2:g.787659_787660insTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-56_14792-55insTTCT MANE Select	ENSP00000305941.3:n.14792-56_14792-55insTTCT
ENST00000674083.1:c.14792-56_14792-55insTTCT	ENSP00000501296.1:n.14792-56_14792-55insTTCT
ENST00000307340.7:c.14792-56_14792-55insTTCT	ENSP00000305941.3:n.14792-56_14792-55insTTCT
NM_206933.2:c.14792-56_14792-55insTTCT	NP_996816.2:n.14792-56_14792-55insTTCT
NM_206933.3:c.14792-56_14792-55insTTCT	NP_996816.2:n.14792-56_14792-55insTTCT
NM_206933.4:c.14792-56_14792-55insTTCT MANE Select	NP_996816.3:n.14792-56_14792-55insTTCT