Canonical Allele Identifier: CA1220359894

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215641001_215641003delinsTAG , CM000663.2:g.215641001_215641003delinsTAG	GRCh38
NC_000001.10:g.215814343_215814345delinsTAG , CM000663.1:g.215814343_215814345delinsTAG	GRCh37
NC_000001.9:g.213880966_213880968delinsTAG	NCBI36
NG_009497.1:g.787394_787396delinsCTA
NG_009497.2:g.787446_787448delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-269_14792-267delinsCTA MANE Select	ENSP00000305941.3:n.14792-269_14792-267delinsCTA
ENST00000674083.1:c.14792-269_14792-267delinsCTA	ENSP00000501296.1:n.14792-269_14792-267delinsCTA
ENST00000307340.7:c.14792-269_14792-267delinsCTA	ENSP00000305941.3:n.14792-269_14792-267delinsCTA
NM_206933.2:c.14792-269_14792-267delinsCTA	NP_996816.2:n.14792-269_14792-267delinsCTA
NM_206933.3:c.14792-269_14792-267delinsCTA	NP_996816.2:n.14792-269_14792-267delinsCTA
NM_206933.4:c.14792-269_14792-267delinsCTA MANE Select	NP_996816.3:n.14792-269_14792-267delinsCTA