Canonical Allele Identifier: CA2747729350

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070331_216070335del , CM000663.2:g.216070331_216070335del	GRCh38
NC_000001.10:g.216243673_216243677del , CM000663.1:g.216243673_216243677del	GRCh37
NC_000001.9:g.214310296_214310300del	NCBI36
NG_009497.1:g.358063_358067del
NG_009497.2:g.358115_358119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-42_5858-38del MANE Select	ENSP00000305941.3:n.5858-42_5858-38del
ENST00000674083.1:c.5858-42_5858-38del	ENSP00000501296.1:n.5858-42_5858-38del
ENST00000307340.7:c.5858-42_5858-38del	ENSP00000305941.3:n.5858-42_5858-38del
NM_206933.2:c.5858-42_5858-38del	NP_996816.2:n.5858-42_5858-38del
NM_206933.3:c.5858-42_5858-38del	NP_996816.2:n.5858-42_5858-38del
NM_206933.4:c.5858-42_5858-38del MANE Select	NP_996816.3:n.5858-42_5858-38del