Canonical Allele Identifier: CA1220414215

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779728_215779729delinsAC , CM000663.2:g.215779728_215779729delinsAC	GRCh38
NC_000001.10:g.215953070_215953071delinsAC , CM000663.1:g.215953070_215953071delinsAC	GRCh37
NC_000001.9:g.214019693_214019694delinsAC	NCBI36
NG_009497.1:g.648668_648669delinsGT
NG_009497.2:g.648720_648721delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+114_10939+115delinsGT MANE Select	ENSP00000305941.3:n.10939+114_10939+115delinsGT
ENST00000674083.1:c.10939+114_10939+115delinsGT	ENSP00000501296.1:n.10939+114_10939+115delinsGT
ENST00000307340.7:c.10939+114_10939+115delinsGT	ENSP00000305941.3:n.10939+114_10939+115delinsGT
NM_206933.2:c.10939+114_10939+115delinsGT	NP_996816.2:n.10939+114_10939+115delinsGT
NM_206933.3:c.10939+114_10939+115delinsGT	NP_996816.2:n.10939+114_10939+115delinsGT
NM_206933.4:c.10939+114_10939+115delinsGT MANE Select	NP_996816.3:n.10939+114_10939+115delinsGT