Canonical Allele Identifier: CA2747722342

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215813906_215813918del , CM000663.2:g.215813906_215813918del	GRCh38
NC_000001.10:g.215987248_215987260del , CM000663.1:g.215987248_215987260del	GRCh37
NC_000001.9:g.214053871_214053883del	NCBI36
NG_009497.1:g.614479_614491del
NG_009497.2:g.614531_614543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9571-14_9571-2del MANE Select	ENSP00000305941.3:n.9571-14_9571-2del
ENST00000674083.1:c.9571-14_9571-2del	ENSP00000501296.1:n.9571-14_9571-2del
ENST00000307340.7:c.9571-14_9571-2del	ENSP00000305941.3:n.9571-14_9571-2del
NM_206933.2:c.9571-14_9571-2del	NP_996816.2:n.9571-14_9571-2del
NM_206933.3:c.9571-14_9571-2del	NP_996816.2:n.9571-14_9571-2del
NM_206933.4:c.9571-14_9571-2del MANE Select	NP_996816.3:n.9571-14_9571-2del