Canonical Allele Identifier: CA2747729347

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070325_216070326del , CM000663.2:g.216070325_216070326del	GRCh38
NC_000001.10:g.216243667_216243668del , CM000663.1:g.216243667_216243668del	GRCh37
NC_000001.9:g.214310290_214310291del	NCBI36
NG_009497.1:g.358071_358072del
NG_009497.2:g.358123_358124del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.5858-34_5858-33del MANE Select	ENSP00000305941.3:n.5858-34_5858-33del
ENST00000674083.1:c.5858-34_5858-33del	ENSP00000501296.1:n.5858-34_5858-33del
ENST00000307340.7:c.5858-34_5858-33del	ENSP00000305941.3:n.5858-34_5858-33del
NM_206933.2:c.5858-34_5858-33del	NP_996816.2:n.5858-34_5858-33del
NM_206933.3:c.5858-34_5858-33del	NP_996816.2:n.5858-34_5858-33del
NM_206933.4:c.5858-34_5858-33del MANE Select	NP_996816.3:n.5858-34_5858-33del