Canonical Allele Identifier: CA2747716444

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640793_215640795del , CM000663.2:g.215640793_215640795del	GRCh38
NC_000001.10:g.215814135_215814137del , CM000663.1:g.215814135_215814137del	GRCh37
NC_000001.9:g.213880758_213880760del	NCBI36
NG_009497.1:g.787602_787604del
NG_009497.2:g.787654_787656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-61_14792-59del MANE Select	ENSP00000305941.3:n.14792-61_14792-59del
ENST00000674083.1:c.14792-61_14792-59del	ENSP00000501296.1:n.14792-61_14792-59del
ENST00000307340.7:c.14792-61_14792-59del	ENSP00000305941.3:n.14792-61_14792-59del
NM_206933.2:c.14792-61_14792-59del	NP_996816.2:n.14792-61_14792-59del
NM_206933.3:c.14792-61_14792-59del	NP_996816.2:n.14792-61_14792-59del
NM_206933.4:c.14792-61_14792-59del MANE Select	NP_996816.3:n.14792-61_14792-59del