Canonical Allele Identifier: CA1220434427

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817310_215817311delinsTG , CM000663.2:g.215817310_215817311delinsTG	GRCh38
NC_000001.10:g.215990652_215990653delinsTG , CM000663.1:g.215990652_215990653delinsTG	GRCh37
NC_000001.9:g.214057275_214057276delinsTG	NCBI36
NG_009497.1:g.611086_611087delinsCA
NG_009497.2:g.611138_611139delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-116_9372-115delinsCA MANE Select	ENSP00000305941.3:n.9372-116_9372-115delinsCA
ENST00000674083.1:c.9372-116_9372-115delinsCA	ENSP00000501296.1:n.9372-116_9372-115delinsCA
ENST00000307340.7:c.9372-116_9372-115delinsCA	ENSP00000305941.3:n.9372-116_9372-115delinsCA
NM_206933.2:c.9372-116_9372-115delinsCA	NP_996816.2:n.9372-116_9372-115delinsCA
NM_206933.3:c.9372-116_9372-115delinsCA	NP_996816.2:n.9372-116_9372-115delinsCA
NM_206933.4:c.9372-116_9372-115delinsCA MANE Select	NP_996816.3:n.9372-116_9372-115delinsCA