Canonical Allele Identifier: CA2650509008

Gene: USH2A

Linked Data

• gnomAD v4: 1-216070434-ATTGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070437_216070441del , CM000663.2:g.216070437_216070441del	GRCh38
NC_000001.10:g.216243779_216243783del , CM000663.1:g.216243779_216243783del	GRCh37
NC_000001.9:g.214310402_214310406del	NCBI36
NG_009497.1:g.357958_357962del
NG_009497.2:g.358010_358014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-147_5858-143del MANE Select	ENSP00000305941.3:n.5858-147_5858-143del
ENST00000674083.1:c.5858-147_5858-143del	ENSP00000501296.1:n.5858-147_5858-143del
ENST00000307340.7:c.5858-147_5858-143del	ENSP00000305941.3:n.5858-147_5858-143del
NM_206933.2:c.5858-147_5858-143del	NP_996816.2:n.5858-147_5858-143del
NM_206933.3:c.5858-147_5858-143del	NP_996816.2:n.5858-147_5858-143del
NM_206933.4:c.5858-147_5858-143del MANE Select	NP_996816.3:n.5858-147_5858-143del