Canonical Allele Identifier: CA2747721048

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782315_215782316insA , CM000663.2:g.215782315_215782316insA	GRCh38
NC_000001.10:g.215955657_215955658insA , CM000663.1:g.215955657_215955658insA	GRCh37
NC_000001.9:g.214022280_214022281insA	NCBI36
NG_009497.1:g.646081_646082insT
NG_009497.2:g.646133_646134insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-120_10586-119insT MANE Select	ENSP00000305941.3:n.10586-120_10586-119insT
ENST00000674083.1:c.10586-120_10586-119insT	ENSP00000501296.1:n.10586-120_10586-119insT
ENST00000307340.7:c.10586-120_10586-119insT	ENSP00000305941.3:n.10586-120_10586-119insT
NM_206933.2:c.10586-120_10586-119insT	NP_996816.2:n.10586-120_10586-119insT
NM_206933.3:c.10586-120_10586-119insT	NP_996816.2:n.10586-120_10586-119insT
NM_206933.4:c.10586-120_10586-119insT MANE Select	NP_996816.3:n.10586-120_10586-119insT