Canonical Allele Identifier: CA2747729387

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070369_216070374del , CM000663.2:g.216070369_216070374del	GRCh38
NC_000001.10:g.216243711_216243716del , CM000663.1:g.216243711_216243716del	GRCh37
NC_000001.9:g.214310334_214310339del	NCBI36
NG_009497.1:g.358023_358028del
NG_009497.2:g.358075_358080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-82_5858-77del MANE Select	ENSP00000305941.3:n.5858-82_5858-77del
ENST00000674083.1:c.5858-82_5858-77del	ENSP00000501296.1:n.5858-82_5858-77del
ENST00000307340.7:c.5858-82_5858-77del	ENSP00000305941.3:n.5858-82_5858-77del
NM_206933.2:c.5858-82_5858-77del	NP_996816.2:n.5858-82_5858-77del
NM_206933.3:c.5858-82_5858-77del	NP_996816.2:n.5858-82_5858-77del
NM_206933.4:c.5858-82_5858-77del MANE Select	NP_996816.3:n.5858-82_5858-77del