Canonical Allele Identifier: CA2650527113

Gene: USH2A

Linked Data

• gnomAD v4: 1-215782249-T-TTTGGACATTTTTATAGATTTATAGATTACCTAAAATTGGTTGGTGAGGAAAGAATG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782250_215782251insTGGACATTTTTATAGATTTATAGATTACCTAAAATTGGTTGGTGAGGAAAGAATGT , CM000663.2:g.215782250_215782251insTGGACATTTTTATAGATTTATAGATTACCTAAAATTGGTTGGTGAGGAAAGAATGT	GRCh38
NC_000001.10:g.215955592_215955593insTGGACATTTTTATAGATTTATAGATTACCTAAAATTGGTTGGTGAGGAAAGAATGT , CM000663.1:g.215955592_215955593insTGGACATTTTTATAGATTTATAGATTACCTAAAATTGGTTGGTGAGGAAAGAATGT	GRCh37
NC_000001.9:g.214022215_214022216insTGGACATTTTTATAGATTTATAGATTACCTAAAATTGGTTGGTGAGGAAAGAATGT	NCBI36
NG_009497.1:g.646147_646148insCATTCTTTCCTCACCAACCAATTTTAGGTAATCTATAAATCTATAAAAATGTCCAA
NG_009497.2:g.646199_646200insCATTCTTTCCTCACCAACCAATTTTAGGTAATCTATAAATCTATAAAAATGTCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-54_10586-53insCATTCTTTCCTCACCAACCAATTTTAGGTAATCTATAAATCTATAAAAATGTCCAA MANE Select	ENSP00000305941.3:n.10586-54_10586-53insCATTCTTTCCTCACCAACCAA...
ENST00000674083.1:c.10586-54_10586-53insCATTCTTTCCTCACCAACCAATTTTAGGTAATCTATAAATCTATAAAAATGTCCAA	ENSP00000501296.1:n.10586-54_10586-53insCATTCTTTCCTCACCAACCAA...
ENST00000307340.7:c.10586-54_10586-53insCATTCTTTCCTCACCAACCAATTTTAGGTAATCTATAAATCTATAAAAATGTCCAA	ENSP00000305941.3:n.10586-54_10586-53insCATTCTTTCCTCACCAACCAA...
NM_206933.2:c.10586-54_10586-53insCATTCTTTCCTCACCAACCAATTTTAGGTAATCTATAAATCTATAAAAATGTCCAA	NP_996816.2:n.10586-54_10586-53insCATTCTTTCCTCACCAACCAATTTTAG...
NM_206933.3:c.10586-54_10586-53insCATTCTTTCCTCACCAACCAATTTTAGGTAATCTATAAATCTATAAAAATGTCCAA	NP_996816.2:n.10586-54_10586-53insCATTCTTTCCTCACCAACCAATTTTAG...
NM_206933.4:c.10586-54_10586-53insCATTCTTTCCTCACCAACCAATTTTAGGTAATCTATAAATCTATAAAAATGTCCAA MANE Select	NP_996816.3:n.10586-54_10586-53insCATTCTTTCCTCACCAACCAATTTTAG...