Canonical Allele Identifier: CA1220542850

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070342_216070344delinsCTA , CM000663.2:g.216070342_216070344delinsCTA	GRCh38
NC_000001.10:g.216243684_216243686delinsCTA , CM000663.1:g.216243684_216243686delinsCTA	GRCh37
NC_000001.9:g.214310307_214310309delinsCTA	NCBI36
NG_009497.1:g.358053_358055delinsTAG
NG_009497.2:g.358105_358107delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-52_5858-50delinsTAG MANE Select	ENSP00000305941.3:n.5858-52_5858-50delinsTAG
ENST00000674083.1:c.5858-52_5858-50delinsTAG	ENSP00000501296.1:n.5858-52_5858-50delinsTAG
ENST00000307340.7:c.5858-52_5858-50delinsTAG	ENSP00000305941.3:n.5858-52_5858-50delinsTAG
NM_206933.2:c.5858-52_5858-50delinsTAG	NP_996816.2:n.5858-52_5858-50delinsTAG
NM_206933.3:c.5858-52_5858-50delinsTAG	NP_996816.2:n.5858-52_5858-50delinsTAG
NM_206933.4:c.5858-52_5858-50delinsTAG MANE Select	NP_996816.3:n.5858-52_5858-50delinsTAG