Canonical Allele Identifier: CA2574001824

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215816993_215816996del , CM000663.2:g.215816993_215816996del	GRCh38
NC_000001.10:g.215990335_215990338del , CM000663.1:g.215990335_215990338del	GRCh37
NC_000001.9:g.214056958_214056961del	NCBI36
NG_009497.1:g.611403_611406del
NG_009497.2:g.611455_611458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9570+3_9570+6del MANE Select	ENSP00000305941.3:n.9570+3_9570+6del
ENST00000674083.1:c.9570+3_9570+6del	ENSP00000501296.1:n.9570+3_9570+6del
ENST00000307340.7:c.9570+3_9570+6del	ENSP00000305941.3:n.9570+3_9570+6del
NM_206933.2:c.9570+3_9570+6del	NP_996816.2:n.9570+3_9570+6del
NM_206933.3:c.9570+3_9570+6del	NP_996816.2:n.9570+3_9570+6del
NM_206933.4:c.9570+3_9570+6del MANE Select	NP_996816.3:n.9570+3_9570+6del