Canonical Allele Identifier: CA1220417022

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782437_215782450delinsTTCAATATTAAAAC , CM000663.2:g.215782437_215782450delinsTTCAATATTAAAAC	GRCh38
NC_000001.10:g.215955779_215955792delinsTTCAATATTAAAAC , CM000663.1:g.215955779_215955792delinsTTCAATATTAAAAC	GRCh37
NC_000001.9:g.214022402_214022415delinsTTCAATATTAAAAC	NCBI36
NG_009497.1:g.645947_645960delinsGTTTTAATATTGAA
NG_009497.2:g.645999_646012delinsGTTTTAATATTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-254_10586-241delinsGTTTTAATATTGAA MANE Select	ENSP00000305941.3:n.10586-254_10586-241delinsGTTTTAATATTGAA
ENST00000674083.1:c.10586-254_10586-241delinsGTTTTAATATTGAA	ENSP00000501296.1:n.10586-254_10586-241delinsGTTTTAATATTGAA
ENST00000307340.7:c.10586-254_10586-241delinsGTTTTAATATTGAA	ENSP00000305941.3:n.10586-254_10586-241delinsGTTTTAATATTGAA
NM_206933.2:c.10586-254_10586-241delinsGTTTTAATATTGAA	NP_996816.2:n.10586-254_10586-241delinsGTTTTAATATTGAA
NM_206933.3:c.10586-254_10586-241delinsGTTTTAATATTGAA	NP_996816.2:n.10586-254_10586-241delinsGTTTTAATATTGAA
NM_206933.4:c.10586-254_10586-241delinsGTTTTAATATTGAA MANE Select	NP_996816.3:n.10586-254_10586-241delinsGTTTTAATATTGAA