Canonical Allele Identifier: CA1143808159

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640815_215640840delinsTGAGCAAAATCAAACCGAACCAATCC , CM000663.2:g.215640815_215640840delinsTGAGCAAAATCAAACCGAACCAATCC	GRCh38
NC_000001.10:g.215814157_215814182delinsTGAGCAAAATCAAACCGAACCAATCC , CM000663.1:g.215814157_215814182delinsTGAGCAAAATCAAACCGAACCAATCC	GRCh37
NC_000001.9:g.213880780_213880805delinsTGAGCAAAATCAAACCGAACCAATCC	NCBI36
NG_009497.1:g.787557_787582delinsGGATTGGTTCGGTTTGATTTTGCTCA
NG_009497.2:g.787609_787634delinsGGATTGGTTCGGTTTGATTTTGCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-106_14792-81delinsGGATTGGTTCGGTTTGATTTTGCTCA MANE Select	ENSP00000305941.3:n.14792-106_14792-81delinsGGATTGGTTCGGTTTGA...
ENST00000674083.1:c.14792-106_14792-81delinsGGATTGGTTCGGTTTGATTTTGCTCA	ENSP00000501296.1:n.14792-106_14792-81delinsGGATTGGTTCGGTTTGA...
ENST00000307340.7:c.14792-106_14792-81delinsGGATTGGTTCGGTTTGATTTTGCTCA	ENSP00000305941.3:n.14792-106_14792-81delinsGGATTGGTTCGGTTTGA...
NM_206933.2:c.14792-106_14792-81delinsGGATTGGTTCGGTTTGATTTTGCTCA	NP_996816.2:n.14792-106_14792-81delinsGGATTGGTTCGGTTTGATTTTGC...
NM_206933.3:c.14792-106_14792-81delinsGGATTGGTTCGGTTTGATTTTGCTCA	NP_996816.2:n.14792-106_14792-81delinsGGATTGGTTCGGTTTGATTTTGC...
NM_206933.4:c.14792-106_14792-81delinsGGATTGGTTCGGTTTGATTTTGCTCA MANE Select	NP_996816.3:n.14792-106_14792-81delinsGGATTGGTTCGGTTTGATTTTGC...