Canonical Allele Identifier: CA2574001297

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070324del , CM000663.2:g.216070324del	GRCh38
NC_000001.10:g.216243666del , CM000663.1:g.216243666del	GRCh37
NC_000001.9:g.214310289del	NCBI36
NG_009497.1:g.358076del
NG_009497.2:g.358128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-29del MANE Select	ENSP00000305941.3:n.5858-29del
ENST00000674083.1:c.5858-29del	ENSP00000501296.1:n.5858-29del
ENST00000307340.7:c.5858-29del	ENSP00000305941.3:n.5858-29del
NM_206933.2:c.5858-29del	NP_996816.2:n.5858-29del
NM_206933.3:c.5858-29del	NP_996816.2:n.5858-29del
NM_206933.4:c.5858-29del MANE Select	NP_996816.3:n.5858-29del