Canonical Allele Identifier: CA2502121361

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175329_216175330insATGAATTTTTA , CM000663.2:g.216175329_216175330insATGAATTTTTA	GRCh38
NC_000001.10:g.216348671_216348672insATGAATTTTTA , CM000663.1:g.216348671_216348672insATGAATTTTTA	GRCh37
NC_000001.9:g.214415294_214415295insATGAATTTTTA	NCBI36
NG_009497.1:g.253068_253069insAAAAATTCATT
NG_009497.2:g.253120_253121insAAAAATTCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4550_4551insAAAAATTCATT MANE Select	ENSP00000305941.3:p.Met1517IlefsTer5
ENST00000674083.1:c.4550_4551insAAAAATTCATT	ENSP00000501296.1:p.Met1517IlefsTer5
ENST00000307340.7:c.4550_4551insAAAAATTCATT	ENSP00000305941.3:p.Met1517IlefsTer5
ENST00000366942.3:c.4550_4551insAAAAATTCATT	ENSP00000355909.3:p.Met1517IlefsTer5
NM_007123.5:c.4550_4551insAAAAATTCATT	NP_009054.5:p.Met1517IlefsTer5
NM_206933.2:c.4550_4551insAAAAATTCATT	NP_996816.2:p.Met1517IlefsTer5
NM_206933.3:c.4550_4551insAAAAATTCATT	NP_996816.2:p.Met1517IlefsTer5
NM_007123.6:c.4550_4551insAAAAATTCATT	NP_009054.6:p.Met1517IlefsTer5
NM_206933.4:c.4550_4551insAAAAATTCATT MANE Select	NP_996816.3:p.Met1517IlefsTer5