Canonical Allele Identifier: CA2747717491

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671348_215671349insCTT , CM000663.2:g.215671348_215671349insCTT	GRCh38
NC_000001.10:g.215844690_215844691insCTT , CM000663.1:g.215844690_215844691insCTT	GRCh37
NC_000001.9:g.213911313_213911314insCTT	NCBI36
NG_009497.1:g.757048_757049insAAG
NG_009497.2:g.757100_757101insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-56_13812-55insAAG MANE Select	ENSP00000305941.3:n.13812-56_13812-55insAAG
ENST00000674083.1:c.13812-56_13812-55insAAG	ENSP00000501296.1:n.13812-56_13812-55insAAG
ENST00000307340.7:c.13812-56_13812-55insAAG	ENSP00000305941.3:n.13812-56_13812-55insAAG
NM_206933.2:c.13812-56_13812-55insAAG	NP_996816.2:n.13812-56_13812-55insAAG
NM_206933.3:c.13812-56_13812-55insAAG	NP_996816.2:n.13812-56_13812-55insAAG
NM_206933.4:c.13812-56_13812-55insAAG MANE Select	NP_996816.3:n.13812-56_13812-55insAAG