Canonical Allele Identifier: CA2747735796

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247191_216247192del , CM000663.2:g.216247191_216247192del	GRCh38
NC_000001.10:g.216420533_216420534del , CM000663.1:g.216420533_216420534del	GRCh37
NC_000001.9:g.214487156_214487157del	NCBI36
NG_009497.1:g.181205_181206del
NG_009497.2:g.181257_181258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2202_2203del MANE Select	ENSP00000305941.3:p.Lys734AsnfsTer6
ENST00000674083.1:c.2202_2203del	ENSP00000501296.1:p.Lys734AsnfsTer6
ENST00000307340.7:c.2202_2203del	ENSP00000305941.3:p.Lys734AsnfsTer6
ENST00000366942.3:c.2202_2203del	ENSP00000355909.3:p.Lys734AsnfsTer6
NM_007123.5:c.2202_2203del	NP_009054.5:p.Lys734AsnfsTer6
NM_206933.2:c.2202_2203del	NP_996816.2:p.Lys734AsnfsTer6
NM_206933.3:c.2202_2203del	NP_996816.2:p.Lys734AsnfsTer6
NM_007123.6:c.2202_2203del	NP_009054.6:p.Lys734AsnfsTer6
NM_206933.4:c.2202_2203del MANE Select	NP_996816.3:p.Lys734AsnfsTer6