Canonical Allele Identifier: CA2747740500

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418717_216418729del , CM000663.2:g.216418717_216418729del	GRCh38
NC_000001.10:g.216592059_216592071del , CM000663.1:g.216592059_216592071del	GRCh37
NC_000001.9:g.214658682_214658694del	NCBI36
NG_009497.1:g.9668_9680del
NG_009497.2:g.9720_9732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.486-50_486-38del MANE Select	ENSP00000305941.3:n.486-50_486-38del
ENST00000674083.1:c.486-50_486-38del	ENSP00000501296.1:n.486-50_486-38del
ENST00000307340.7:c.486-50_486-38del	ENSP00000305941.3:n.486-50_486-38del
ENST00000366942.3:c.486-50_486-38del	ENSP00000355909.3:n.486-50_486-38del
NM_007123.5:c.486-50_486-38del	NP_009054.5:n.486-50_486-38del
NM_206933.2:c.486-50_486-38del	NP_996816.2:n.486-50_486-38del
NM_206933.3:c.486-50_486-38del	NP_996816.2:n.486-50_486-38del
NM_007123.6:c.486-50_486-38del	NP_009054.6:n.486-50_486-38del
NM_206933.4:c.486-50_486-38del MANE Select	NP_996816.3:n.486-50_486-38del