Canonical Allele Identifier: CA2747716376

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640739_215640746del , CM000663.2:g.215640739_215640746del	GRCh38
NC_000001.10:g.215814081_215814088del , CM000663.1:g.215814081_215814088del	GRCh37
NC_000001.9:g.213880704_213880711del	NCBI36
NG_009497.1:g.787651_787658del
NG_009497.2:g.787703_787710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-12_14792-5del MANE Select	ENSP00000305941.3:n.14792-12_14792-5del
ENST00000674083.1:c.14792-12_14792-5del	ENSP00000501296.1:n.14792-12_14792-5del
ENST00000307340.7:c.14792-12_14792-5del	ENSP00000305941.3:n.14792-12_14792-5del
NM_206933.2:c.14792-12_14792-5del	NP_996816.2:n.14792-12_14792-5del
NM_206933.3:c.14792-12_14792-5del	NP_996816.2:n.14792-12_14792-5del
NM_206933.4:c.14792-12_14792-5del MANE Select	NP_996816.3:n.14792-12_14792-5del