Canonical Allele Identifier: CA1220376127

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680067_215680070delinsACAG , CM000663.2:g.215680067_215680070delinsACAG	GRCh38
NC_000001.10:g.215853409_215853412delinsACAG , CM000663.1:g.215853409_215853412delinsACAG	GRCh37
NC_000001.9:g.213920032_213920035delinsACAG	NCBI36
NG_009497.1:g.748327_748330delinsCTGT
NG_009497.2:g.748379_748382delinsCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12294+79_12294+82delinsCTGT MANE Select	ENSP00000305941.3:n.12294+79_12294+82delinsCTGT
ENST00000674083.1:c.12294+79_12294+82delinsCTGT	ENSP00000501296.1:n.12294+79_12294+82delinsCTGT
ENST00000307340.7:c.12294+79_12294+82delinsCTGT	ENSP00000305941.3:n.12294+79_12294+82delinsCTGT
NM_206933.2:c.12294+79_12294+82delinsCTGT	NP_996816.2:n.12294+79_12294+82delinsCTGT
NM_206933.3:c.12294+79_12294+82delinsCTGT	NP_996816.2:n.12294+79_12294+82delinsCTGT
NM_206933.4:c.12294+79_12294+82delinsCTGT MANE Select	NP_996816.3:n.12294+79_12294+82delinsCTGT