Canonical Allele Identifier: CA2569066480

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782389_215782390insCA , CM000663.2:g.215782389_215782390insCA	GRCh38
NC_000001.10:g.215955731_215955732insCA , CM000663.1:g.215955731_215955732insCA	GRCh37
NC_000001.9:g.214022354_214022355insCA	NCBI36
NG_009497.1:g.646008_646009insGT
NG_009497.2:g.646060_646061insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-193_10586-192insGT MANE Select	ENSP00000305941.3:n.10586-193_10586-192insGT
ENST00000674083.1:c.10586-193_10586-192insGT	ENSP00000501296.1:n.10586-193_10586-192insGT
ENST00000307340.7:c.10586-193_10586-192insGT	ENSP00000305941.3:n.10586-193_10586-192insGT
NM_206933.2:c.10586-193_10586-192insGT	NP_996816.2:n.10586-193_10586-192insGT
NM_206933.3:c.10586-193_10586-192insGT	NP_996816.2:n.10586-193_10586-192insGT
NM_206933.4:c.10586-193_10586-192insGT MANE Select	NP_996816.3:n.10586-193_10586-192insGT