Canonical Allele Identifier: CA1220619316

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247234_216247247delinsTAAAATATATTTAA , CM000663.2:g.216247234_216247247delinsTAAAATATATTTAA	GRCh38
NC_000001.10:g.216420576_216420589delinsTAAAATATATTTAA , CM000663.1:g.216420576_216420589delinsTAAAATATATTTAA	GRCh37
NC_000001.9:g.214487199_214487212delinsTAAAATATATTTAA	NCBI36
NG_009497.1:g.181150_181163delinsTTAAATATATTTTA
NG_009497.2:g.181202_181215delinsTTAAATATATTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2168-21_2168-8delinsTTAAATATATTTTA MANE Select	ENSP00000305941.3:n.2168-21_2168-8delinsTTAAATATATTTTA
ENST00000674083.1:c.2168-21_2168-8delinsTTAAATATATTTTA	ENSP00000501296.1:n.2168-21_2168-8delinsTTAAATATATTTTA
ENST00000307340.7:c.2168-21_2168-8delinsTTAAATATATTTTA	ENSP00000305941.3:n.2168-21_2168-8delinsTTAAATATATTTTA
ENST00000366942.3:c.2168-21_2168-8delinsTTAAATATATTTTA	ENSP00000355909.3:n.2168-21_2168-8delinsTTAAATATATTTTA
NM_007123.5:c.2168-21_2168-8delinsTTAAATATATTTTA	NP_009054.5:n.2168-21_2168-8delinsTTAAATATATTTTA
NM_206933.2:c.2168-21_2168-8delinsTTAAATATATTTTA	NP_996816.2:n.2168-21_2168-8delinsTTAAATATATTTTA
NM_206933.3:c.2168-21_2168-8delinsTTAAATATATTTTA	NP_996816.2:n.2168-21_2168-8delinsTTAAATATATTTTA
NM_007123.6:c.2168-21_2168-8delinsTTAAATATATTTTA	NP_009054.6:n.2168-21_2168-8delinsTTAAATATATTTTA
NM_206933.4:c.2168-21_2168-8delinsTTAAATATATTTTA MANE Select	NP_996816.3:n.2168-21_2168-8delinsTTAAATATATTTTA