Canonical Allele Identifier: CA2747722514

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817255_215817256insACAG , CM000663.2:g.215817255_215817256insACAG	GRCh38
NC_000001.10:g.215990597_215990598insACAG , CM000663.1:g.215990597_215990598insACAG	GRCh37
NC_000001.9:g.214057220_214057221insACAG	NCBI36
NG_009497.1:g.611141_611142insCTGT
NG_009497.2:g.611193_611194insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-61_9372-60insCTGT MANE Select	ENSP00000305941.3:n.9372-61_9372-60insCTGT
ENST00000674083.1:c.9372-61_9372-60insCTGT	ENSP00000501296.1:n.9372-61_9372-60insCTGT
ENST00000307340.7:c.9372-61_9372-60insCTGT	ENSP00000305941.3:n.9372-61_9372-60insCTGT
NM_206933.2:c.9372-61_9372-60insCTGT	NP_996816.2:n.9372-61_9372-60insCTGT
NM_206933.3:c.9372-61_9372-60insCTGT	NP_996816.2:n.9372-61_9372-60insCTGT
NM_206933.4:c.9372-61_9372-60insCTGT MANE Select	NP_996816.3:n.9372-61_9372-60insCTGT