Canonical Allele Identifier: CA1220688454

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418680_216418683delinsCTTA , CM000663.2:g.216418680_216418683delinsCTTA	GRCh38
NC_000001.10:g.216592022_216592025delinsCTTA , CM000663.1:g.216592022_216592025delinsCTTA	GRCh37
NC_000001.9:g.214658645_214658648delinsCTTA	NCBI36
NG_009497.1:g.9714_9717delinsTAAG
NG_009497.2:g.9766_9769delinsTAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.486-4_486-1delinsTAAG MANE Select	ENSP00000305941.3:n.486-4_486-1delinsTAAG...
ENST00000674083.1:c.486-4_486-1delinsTAAG	ENSP00000501296.1:n.486-4_486-1delinsTAAG...
ENST00000307340.7:c.486-4_486-1delinsTAAG	ENSP00000305941.3:n.486-4_486-1delinsTAAG...
ENST00000366942.3:c.486-4_486-1delinsTAAG	ENSP00000355909.3:n.486-4_486-1delinsTAAG...
NM_007123.5:c.486-4_486-1delinsTAAG	NP_009054.5:n.486-4_486-1delinsTAAG
NM_206933.2:c.486-4_486-1delinsTAAG	NP_996816.2:n.486-4_486-1delinsTAAG
NM_206933.3:c.486-4_486-1delinsTAAG	NP_996816.2:n.486-4_486-1delinsTAAG
NM_007123.6:c.486-4_486-1delinsTAAG	NP_009054.6:n.486-4_486-1delinsTAAG
NM_206933.4:c.486-4_486-1delinsTAAG MANE Select	NP_996816.3:n.486-4_486-1delinsTAAG