Canonical Allele Identifier: CA1220417027

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782445_215782447delinsTAA , CM000663.2:g.215782445_215782447delinsTAA	GRCh38
NC_000001.10:g.215955787_215955789delinsTAA , CM000663.1:g.215955787_215955789delinsTAA	GRCh37
NC_000001.9:g.214022410_214022412delinsTAA	NCBI36
NG_009497.1:g.645950_645952delinsTTA
NG_009497.2:g.646002_646004delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-251_10586-249delinsTTA MANE Select	ENSP00000305941.3:n.10586-251_10586-249delinsTTA
ENST00000674083.1:c.10586-251_10586-249delinsTTA	ENSP00000501296.1:n.10586-251_10586-249delinsTTA
ENST00000307340.7:c.10586-251_10586-249delinsTTA	ENSP00000305941.3:n.10586-251_10586-249delinsTTA
NM_206933.2:c.10586-251_10586-249delinsTTA	NP_996816.2:n.10586-251_10586-249delinsTTA
NM_206933.3:c.10586-251_10586-249delinsTTA	NP_996816.2:n.10586-251_10586-249delinsTTA
NM_206933.4:c.10586-251_10586-249delinsTTA MANE Select	NP_996816.3:n.10586-251_10586-249delinsTTA