Canonical Allele Identifier: CA1220434413

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817290_215817291delinsTA , CM000663.2:g.215817290_215817291delinsTA	GRCh38
NC_000001.10:g.215990632_215990633delinsTA , CM000663.1:g.215990632_215990633delinsTA	GRCh37
NC_000001.9:g.214057255_214057256delinsTA	NCBI36
NG_009497.1:g.611106_611107delinsTA
NG_009497.2:g.611158_611159delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-96_9372-95delinsTA MANE Select	ENSP00000305941.3:n.9372-96_9372-95delinsTA
ENST00000674083.1:c.9372-96_9372-95delinsTA	ENSP00000501296.1:n.9372-96_9372-95delinsTA
ENST00000307340.7:c.9372-96_9372-95delinsTA	ENSP00000305941.3:n.9372-96_9372-95delinsTA
NM_206933.2:c.9372-96_9372-95delinsTA	NP_996816.2:n.9372-96_9372-95delinsTA
NM_206933.3:c.9372-96_9372-95delinsTA	NP_996816.2:n.9372-96_9372-95delinsTA
NM_206933.4:c.9372-96_9372-95delinsTA MANE Select	NP_996816.3:n.9372-96_9372-95delinsTA