Canonical Allele Identifier: CA2586968200

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680270_215680292del , CM000663.2:g.215680270_215680292del	GRCh38
NC_000001.10:g.215853612_215853634del , CM000663.1:g.215853612_215853634del	GRCh37
NC_000001.9:g.213920235_213920257del	NCBI36
NG_009497.1:g.748107_748129del
NG_009497.2:g.748159_748181del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.12153_12175del MANE Select	ENSP00000305941.3:p.Glu4051AspfsTer?
ENST00000674083.1:c.12153_12175del	ENSP00000501296.1:p.Glu4051AspfsTer?
ENST00000307340.7:c.12153_12175del	ENSP00000305941.3:p.Glu4051AspfsTer?
NM_206933.2:c.12153_12175del	NP_996816.2:p.Glu4051AspfsTer?
NM_206933.3:c.12153_12175del	NP_996816.2:p.Glu4051AspfsTer?
NM_206933.4:c.12153_12175del MANE Select	NP_996816.3:p.Glu4051AspfsTer?