Canonical Allele Identifier: CA1220359814

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640842_215640844delinsAAC , CM000663.2:g.215640842_215640844delinsAAC	GRCh38
NC_000001.10:g.215814184_215814186delinsAAC , CM000663.1:g.215814184_215814186delinsAAC	GRCh37
NC_000001.9:g.213880807_213880809delinsAAC	NCBI36
NG_009497.1:g.787553_787555delinsGTT
NG_009497.2:g.787605_787607delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-110_14792-108delinsGTT MANE Select	ENSP00000305941.3:n.14792-110_14792-108delinsGTT
ENST00000674083.1:c.14792-110_14792-108delinsGTT	ENSP00000501296.1:n.14792-110_14792-108delinsGTT
ENST00000307340.7:c.14792-110_14792-108delinsGTT	ENSP00000305941.3:n.14792-110_14792-108delinsGTT
NM_206933.2:c.14792-110_14792-108delinsGTT	NP_996816.2:n.14792-110_14792-108delinsGTT
NM_206933.3:c.14792-110_14792-108delinsGTT	NP_996816.2:n.14792-110_14792-108delinsGTT
NM_206933.4:c.14792-110_14792-108delinsGTT MANE Select	NP_996816.3:n.14792-110_14792-108delinsGTT