Canonical Allele Identifier: CA1220414234

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779746_215779747delinsAC , CM000663.2:g.215779746_215779747delinsAC	GRCh38
NC_000001.10:g.215953088_215953089delinsAC , CM000663.1:g.215953088_215953089delinsAC	GRCh37
NC_000001.9:g.214019711_214019712delinsAC	NCBI36
NG_009497.1:g.648650_648651delinsGT
NG_009497.2:g.648702_648703delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+96_10939+97delinsGT MANE Select	ENSP00000305941.3:n.10939+96_10939+97delinsGT
ENST00000674083.1:c.10939+96_10939+97delinsGT	ENSP00000501296.1:n.10939+96_10939+97delinsGT
ENST00000307340.7:c.10939+96_10939+97delinsGT	ENSP00000305941.3:n.10939+96_10939+97delinsGT
NM_206933.2:c.10939+96_10939+97delinsGT	NP_996816.2:n.10939+96_10939+97delinsGT
NM_206933.3:c.10939+96_10939+97delinsGT	NP_996816.2:n.10939+96_10939+97delinsGT
NM_206933.4:c.10939+96_10939+97delinsGT MANE Select	NP_996816.3:n.10939+96_10939+97delinsGT