Canonical Allele Identifier: CA2574132887

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743165_215743166insTCC , CM000663.2:g.215743165_215743166insTCC	GRCh38
NC_000001.10:g.215916507_215916508insTCC , CM000663.1:g.215916507_215916508insTCC	GRCh37
NC_000001.9:g.213983130_213983131insTCC	NCBI36
NG_009497.1:g.685231_685232insGGA
NG_009497.2:g.685283_685284insGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11548+11_11548+12insGGA MANE Select	ENSP00000305941.3:n.11548+11_11548+12insGGA
ENST00000674083.1:c.11548+11_11548+12insGGA	ENSP00000501296.1:n.11548+11_11548+12insGGA
ENST00000307340.7:c.11548+11_11548+12insGGA	ENSP00000305941.3:n.11548+11_11548+12insGGA
NM_206933.2:c.11548+11_11548+12insGGA	NP_996816.2:n.11548+11_11548+12insGGA
NM_206933.3:c.11548+11_11548+12insGGA	NP_996816.2:n.11548+11_11548+12insGGA
NM_206933.4:c.11548+11_11548+12insGGA MANE Select	NP_996816.3:n.11548+11_11548+12insGGA