Canonical Allele Identifier: CA1220359845

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640889_215640890delinsAC , CM000663.2:g.215640889_215640890delinsAC	GRCh38
NC_000001.10:g.215814231_215814232delinsAC , CM000663.1:g.215814231_215814232delinsAC	GRCh37
NC_000001.9:g.213880854_213880855delinsAC	NCBI36
NG_009497.1:g.787507_787508delinsGT
NG_009497.2:g.787559_787560delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-156_14792-155delinsGT MANE Select	ENSP00000305941.3:n.14792-156_14792-155delinsGT
ENST00000674083.1:c.14792-156_14792-155delinsGT	ENSP00000501296.1:n.14792-156_14792-155delinsGT
ENST00000307340.7:c.14792-156_14792-155delinsGT	ENSP00000305941.3:n.14792-156_14792-155delinsGT
NM_206933.2:c.14792-156_14792-155delinsGT	NP_996816.2:n.14792-156_14792-155delinsGT
NM_206933.3:c.14792-156_14792-155delinsGT	NP_996816.2:n.14792-156_14792-155delinsGT
NM_206933.4:c.14792-156_14792-155delinsGT MANE Select	NP_996816.3:n.14792-156_14792-155delinsGT