Canonical Allele Identifier: CA1220412854

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766781_215766784delinsCTGG , CM000663.2:g.215766781_215766784delinsCTGG	GRCh38
NC_000001.10:g.215940123_215940126delinsCTGG , CM000663.1:g.215940123_215940126delinsCTGG	GRCh37
NC_000001.9:g.214006746_214006749delinsCTGG	NCBI36
NG_009497.1:g.661613_661616delinsCCAG
NG_009497.2:g.661665_661668delinsCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10944_10947delinsCCAG MANE Select	ENSP00000305941.3:p.Leu3648=
ENST00000674083.1:c.10944_10947delinsCCAG	ENSP00000501296.1:p.Leu3648=
ENST00000307340.7:c.10944_10947delinsCCAG	ENSP00000305941.3:p.Leu3648=
NM_206933.2:c.10944_10947delinsCCAG	NP_996816.2:p.Leu3648=
NM_206933.3:c.10944_10947delinsCCAG	NP_996816.2:p.Leu3648=
NM_206933.4:c.10944_10947delinsCCAG MANE Select	NP_996816.3:p.Leu3648=