Canonical Allele Identifier: CA2747722549

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817274_215817280del , CM000663.2:g.215817274_215817280del	GRCh38
NC_000001.10:g.215990616_215990622del , CM000663.1:g.215990616_215990622del	GRCh37
NC_000001.9:g.214057239_214057245del	NCBI36
NG_009497.1:g.611117_611123del
NG_009497.2:g.611169_611175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-85_9372-79del MANE Select	ENSP00000305941.3:n.9372-85_9372-79del
ENST00000674083.1:c.9372-85_9372-79del	ENSP00000501296.1:n.9372-85_9372-79del
ENST00000307340.7:c.9372-85_9372-79del	ENSP00000305941.3:n.9372-85_9372-79del
NM_206933.2:c.9372-85_9372-79del	NP_996816.2:n.9372-85_9372-79del
NM_206933.3:c.9372-85_9372-79del	NP_996816.2:n.9372-85_9372-79del
NM_206933.4:c.9372-85_9372-79del MANE Select	NP_996816.3:n.9372-85_9372-79del