Canonical Allele Identifier: CA1220414202

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779705_215779710delinsGGACCT , CM000663.2:g.215779705_215779710delinsGGACCT	GRCh38
NC_000001.10:g.215953047_215953052delinsGGACCT , CM000663.1:g.215953047_215953052delinsGGACCT	GRCh37
NC_000001.9:g.214019670_214019675delinsGGACCT	NCBI36
NG_009497.1:g.648687_648692delinsAGGTCC
NG_009497.2:g.648739_648744delinsAGGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+133_10939+138delinsAGGTCC MANE Select	ENSP00000305941.3:n.10939+133_10939+138delinsAGGTCC
ENST00000674083.1:c.10939+133_10939+138delinsAGGTCC	ENSP00000501296.1:n.10939+133_10939+138delinsAGGTCC
ENST00000307340.7:c.10939+133_10939+138delinsAGGTCC	ENSP00000305941.3:n.10939+133_10939+138delinsAGGTCC
NM_206933.2:c.10939+133_10939+138delinsAGGTCC	NP_996816.2:n.10939+133_10939+138delinsAGGTCC
NM_206933.3:c.10939+133_10939+138delinsAGGTCC	NP_996816.2:n.10939+133_10939+138delinsAGGTCC
NM_206933.4:c.10939+133_10939+138delinsAGGTCC MANE Select	NP_996816.3:n.10939+133_10939+138delinsAGGTCC