Canonical Allele Identifier: CA1220359794

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640814_215640840delinsATGAGCAAAATCAAACCGAACCAATCC , CM000663.2:g.215640814_215640840delinsATGAGCAAAATCAAACCGAACCAATCC	GRCh38
NC_000001.10:g.215814156_215814182delinsATGAGCAAAATCAAACCGAACCAATCC , CM000663.1:g.215814156_215814182delinsATGAGCAAAATCAAACCGAACCAATCC	GRCh37
NC_000001.9:g.213880779_213880805delinsATGAGCAAAATCAAACCGAACCAATCC	NCBI36
NG_009497.1:g.787557_787583delinsGGATTGGTTCGGTTTGATTTTGCTCAT
NG_009497.2:g.787609_787635delinsGGATTGGTTCGGTTTGATTTTGCTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-106_14792-80delinsGGATTGGTTCGGTTTGATTTTGCTCAT MANE Select	ENSP00000305941.3:n.14792-106_14792-80delinsGGATTGGTTCGGTTTGA...
ENST00000674083.1:c.14792-106_14792-80delinsGGATTGGTTCGGTTTGATTTTGCTCAT	ENSP00000501296.1:n.14792-106_14792-80delinsGGATTGGTTCGGTTTGA...
ENST00000307340.7:c.14792-106_14792-80delinsGGATTGGTTCGGTTTGATTTTGCTCAT	ENSP00000305941.3:n.14792-106_14792-80delinsGGATTGGTTCGGTTTGA...
NM_206933.2:c.14792-106_14792-80delinsGGATTGGTTCGGTTTGATTTTGCTCAT	NP_996816.2:n.14792-106_14792-80delinsGGATTGGTTCGGTTTGATTTTGC...
NM_206933.3:c.14792-106_14792-80delinsGGATTGGTTCGGTTTGATTTTGCTCAT	NP_996816.2:n.14792-106_14792-80delinsGGATTGGTTCGGTTTGATTTTGC...
NM_206933.4:c.14792-106_14792-80delinsGGATTGGTTCGGTTTGATTTTGCTCAT MANE Select	NP_996816.3:n.14792-106_14792-80delinsGGATTGGTTCGGTTTGATTTTGC...