Canonical Allele Identifier: CA1220372258

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671372_215671374delinsTAA , CM000663.2:g.215671372_215671374delinsTAA	GRCh38
NC_000001.10:g.215844714_215844716delinsTAA , CM000663.1:g.215844714_215844716delinsTAA	GRCh37
NC_000001.9:g.213911337_213911339delinsTAA	NCBI36
NG_009497.1:g.757023_757025delinsTTA
NG_009497.2:g.757075_757077delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-81_13812-79delinsTTA MANE Select	ENSP00000305941.3:n.13812-81_13812-79delinsTTA
ENST00000674083.1:c.13812-81_13812-79delinsTTA	ENSP00000501296.1:n.13812-81_13812-79delinsTTA
ENST00000307340.7:c.13812-81_13812-79delinsTTA	ENSP00000305941.3:n.13812-81_13812-79delinsTTA
NM_206933.2:c.13812-81_13812-79delinsTTA	NP_996816.2:n.13812-81_13812-79delinsTTA
NM_206933.3:c.13812-81_13812-79delinsTTA	NP_996816.2:n.13812-81_13812-79delinsTTA
NM_206933.4:c.13812-81_13812-79delinsTTA MANE Select	NP_996816.3:n.13812-81_13812-79delinsTTA