Canonical Allele Identifier: CA2747729426

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070417_216070418insCAG , CM000663.2:g.216070417_216070418insCAG	GRCh38
NC_000001.10:g.216243759_216243760insCAG , CM000663.1:g.216243759_216243760insCAG	GRCh37
NC_000001.9:g.214310382_214310383insCAG	NCBI36
NG_009497.1:g.357979_357980insCTG
NG_009497.2:g.358031_358032insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-126_5858-125insCTG MANE Select	ENSP00000305941.3:n.5858-126_5858-125insCTG
ENST00000674083.1:c.5858-126_5858-125insCTG	ENSP00000501296.1:n.5858-126_5858-125insCTG
ENST00000307340.7:c.5858-126_5858-125insCTG	ENSP00000305941.3:n.5858-126_5858-125insCTG
NM_206933.2:c.5858-126_5858-125insCTG	NP_996816.2:n.5858-126_5858-125insCTG
NM_206933.3:c.5858-126_5858-125insCTG	NP_996816.2:n.5858-126_5858-125insCTG
NM_206933.4:c.5858-126_5858-125insCTG MANE Select	NP_996816.3:n.5858-126_5858-125insCTG