Canonical Allele Identifier: CA1220434411

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817288_215817290delinsAAT , CM000663.2:g.215817288_215817290delinsAAT	GRCh38
NC_000001.10:g.215990630_215990632delinsAAT , CM000663.1:g.215990630_215990632delinsAAT	GRCh37
NC_000001.9:g.214057253_214057255delinsAAT	NCBI36
NG_009497.1:g.611107_611109delinsATT
NG_009497.2:g.611159_611161delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-95_9372-93delinsATT MANE Select	ENSP00000305941.3:n.9372-95_9372-93delinsATT
ENST00000674083.1:c.9372-95_9372-93delinsATT	ENSP00000501296.1:n.9372-95_9372-93delinsATT
ENST00000307340.7:c.9372-95_9372-93delinsATT	ENSP00000305941.3:n.9372-95_9372-93delinsATT
NM_206933.2:c.9372-95_9372-93delinsATT	NP_996816.2:n.9372-95_9372-93delinsATT
NM_206933.3:c.9372-95_9372-93delinsATT	NP_996816.2:n.9372-95_9372-93delinsATT
NM_206933.4:c.9372-95_9372-93delinsATT MANE Select	NP_996816.3:n.9372-95_9372-93delinsATT