Canonical Allele Identifier: CA2747716485

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640818_215640819insAGA , CM000663.2:g.215640818_215640819insAGA	GRCh38
NC_000001.10:g.215814160_215814161insAGA , CM000663.1:g.215814160_215814161insAGA	GRCh37
NC_000001.9:g.213880783_213880784insAGA	NCBI36
NG_009497.1:g.787578_787579insTCT
NG_009497.2:g.787630_787631insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-85_14792-84insTCT MANE Select	ENSP00000305941.3:n.14792-85_14792-84insTCT
ENST00000674083.1:c.14792-85_14792-84insTCT	ENSP00000501296.1:n.14792-85_14792-84insTCT
ENST00000307340.7:c.14792-85_14792-84insTCT	ENSP00000305941.3:n.14792-85_14792-84insTCT
NM_206933.2:c.14792-85_14792-84insTCT	NP_996816.2:n.14792-85_14792-84insTCT
NM_206933.3:c.14792-85_14792-84insTCT	NP_996816.2:n.14792-85_14792-84insTCT
NM_206933.4:c.14792-85_14792-84insTCT MANE Select	NP_996816.3:n.14792-85_14792-84insTCT