Canonical Allele Identifier: CA2747735794

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247184_216247188del , CM000663.2:g.216247184_216247188del	GRCh38
NC_000001.10:g.216420526_216420530del , CM000663.1:g.216420526_216420530del	GRCh37
NC_000001.9:g.214487149_214487153del	NCBI36
NG_009497.1:g.181209_181213del
NG_009497.2:g.181261_181265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2206_2210del MANE Select	ENSP00000305941.3:p.Leu736LysfsTer3
ENST00000674083.1:c.2206_2210del	ENSP00000501296.1:p.Leu736LysfsTer3
ENST00000307340.7:c.2206_2210del	ENSP00000305941.3:p.Leu736LysfsTer3
ENST00000366942.3:c.2206_2210del	ENSP00000355909.3:p.Leu736LysfsTer3
NM_007123.5:c.2206_2210del	NP_009054.5:p.Leu736LysfsTer3
NM_206933.2:c.2206_2210del	NP_996816.2:p.Leu736LysfsTer3
NM_206933.3:c.2206_2210del	NP_996816.2:p.Leu736LysfsTer3
NM_007123.6:c.2206_2210del	NP_009054.6:p.Leu736LysfsTer3
NM_206933.4:c.2206_2210del MANE Select	NP_996816.3:p.Leu736LysfsTer3