Canonical Allele Identifier: CA2586968180

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799075del , CM000663.2:g.215799075del	GRCh38
NC_000001.10:g.215972417del , CM000663.1:g.215972417del	GRCh37
NC_000001.9:g.214039040del	NCBI36
NG_009497.1:g.629323del
NG_009497.2:g.629375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9791del MANE Select	ENSP00000305941.3:p.Gly3264ValfsTer?
ENST00000674083.1:c.9791del	ENSP00000501296.1:p.Gly3264ValfsTer?
ENST00000307340.7:c.9791del	ENSP00000305941.3:p.Gly3264ValfsTer?
NM_206933.2:c.9791del	NP_996816.2:p.Gly3264ValfsTer?
NM_206933.3:c.9791del	NP_996816.2:p.Gly3264ValfsTer?
NM_206933.4:c.9791del MANE Select	NP_996816.3:p.Gly3264ValfsTer?