Canonical Allele Identifier: CA2747740485

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418679_216418680insA , CM000663.2:g.216418679_216418680insA	GRCh38
NC_000001.10:g.216592021_216592022insA , CM000663.1:g.216592021_216592022insA	GRCh37
NC_000001.9:g.214658644_214658645insA	NCBI36
NG_009497.1:g.9717_9718insT
NG_009497.2:g.9769_9770insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.486-1_486insT MANE Select	ENSP00000305941.3:n.486-1_486insT
ENST00000674083.1:c.486-1_486insT	ENSP00000501296.1:n.486-1_486insT
ENST00000307340.7:c.486-1_486insT	ENSP00000305941.3:n.486-1_486insT
ENST00000366942.3:c.486-1_486insT	ENSP00000355909.3:n.486-1_486insT
NM_007123.5:c.486-1_486insT	NP_009054.5:n.486-1_486insT
NM_206933.2:c.486-1_486insT	NP_996816.2:n.486-1_486insT
NM_206933.3:c.486-1_486insT	NP_996816.2:n.486-1_486insT
NM_007123.6:c.486-1_486insT	NP_009054.6:n.486-1_486insT
NM_206933.4:c.486-1_486insT MANE Select	NP_996816.3:n.486-1_486insT