Canonical Allele Identifier: CA1220542921

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070519_216070524delinsTTCAAG , CM000663.2:g.216070519_216070524delinsTTCAAG	GRCh38
NC_000001.10:g.216243861_216243866delinsTTCAAG , CM000663.1:g.216243861_216243866delinsTTCAAG	GRCh37
NC_000001.9:g.214310484_214310489delinsTTCAAG	NCBI36
NG_009497.1:g.357873_357878delinsCTTGAA
NG_009497.2:g.357925_357930delinsCTTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-232_5858-227delinsCTTGAA MANE Select	ENSP00000305941.3:n.5858-232_5858-227delinsCTTGAA
ENST00000674083.1:c.5858-232_5858-227delinsCTTGAA	ENSP00000501296.1:n.5858-232_5858-227delinsCTTGAA
ENST00000307340.7:c.5858-232_5858-227delinsCTTGAA	ENSP00000305941.3:n.5858-232_5858-227delinsCTTGAA
NM_206933.2:c.5858-232_5858-227delinsCTTGAA	NP_996816.2:n.5858-232_5858-227delinsCTTGAA
NM_206933.3:c.5858-232_5858-227delinsCTTGAA	NP_996816.2:n.5858-232_5858-227delinsCTTGAA
NM_206933.4:c.5858-232_5858-227delinsCTTGAA MANE Select	NP_996816.3:n.5858-232_5858-227delinsCTTGAA