Canonical Allele Identifier: CA2747717482

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671339_215671340insACAG , CM000663.2:g.215671339_215671340insACAG	GRCh38
NC_000001.10:g.215844681_215844682insACAG , CM000663.1:g.215844681_215844682insACAG	GRCh37
NC_000001.9:g.213911304_213911305insACAG	NCBI36
NG_009497.1:g.757057_757058insCTGT
NG_009497.2:g.757109_757110insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-47_13812-46insCTGT MANE Select	ENSP00000305941.3:n.13812-47_13812-46insCTGT
ENST00000674083.1:c.13812-47_13812-46insCTGT	ENSP00000501296.1:n.13812-47_13812-46insCTGT
ENST00000307340.7:c.13812-47_13812-46insCTGT	ENSP00000305941.3:n.13812-47_13812-46insCTGT
NM_206933.2:c.13812-47_13812-46insCTGT	NP_996816.2:n.13812-47_13812-46insCTGT
NM_206933.3:c.13812-47_13812-46insCTGT	NP_996816.2:n.13812-47_13812-46insCTGT
NM_206933.4:c.13812-47_13812-46insCTGT MANE Select	NP_996816.3:n.13812-47_13812-46insCTGT