Canonical Allele Identifier: CA2747729420

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070401_216070402insCT , CM000663.2:g.216070401_216070402insCT	GRCh38
NC_000001.10:g.216243743_216243744insCT , CM000663.1:g.216243743_216243744insCT	GRCh37
NC_000001.9:g.214310366_214310367insCT	NCBI36
NG_009497.1:g.357995_357996insAG
NG_009497.2:g.358047_358048insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-110_5858-109insAG MANE Select	ENSP00000305941.3:n.5858-110_5858-109insAG
ENST00000674083.1:c.5858-110_5858-109insAG	ENSP00000501296.1:n.5858-110_5858-109insAG
ENST00000307340.7:c.5858-110_5858-109insAG	ENSP00000305941.3:n.5858-110_5858-109insAG
NM_206933.2:c.5858-110_5858-109insAG	NP_996816.2:n.5858-110_5858-109insAG
NM_206933.3:c.5858-110_5858-109insAG	NP_996816.2:n.5858-110_5858-109insAG
NM_206933.4:c.5858-110_5858-109insAG MANE Select	NP_996816.3:n.5858-110_5858-109insAG