Canonical Allele Identifier: CA2747721051

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782318_215782319insA , CM000663.2:g.215782318_215782319insA	GRCh38
NC_000001.10:g.215955660_215955661insA , CM000663.1:g.215955660_215955661insA	GRCh37
NC_000001.9:g.214022283_214022284insA	NCBI36
NG_009497.1:g.646078_646079insT
NG_009497.2:g.646130_646131insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-123_10586-122insT MANE Select	ENSP00000305941.3:n.10586-123_10586-122insT
ENST00000674083.1:c.10586-123_10586-122insT	ENSP00000501296.1:n.10586-123_10586-122insT
ENST00000307340.7:c.10586-123_10586-122insT	ENSP00000305941.3:n.10586-123_10586-122insT
NM_206933.2:c.10586-123_10586-122insT	NP_996816.2:n.10586-123_10586-122insT
NM_206933.3:c.10586-123_10586-122insT	NP_996816.2:n.10586-123_10586-122insT
NM_206933.4:c.10586-123_10586-122insT MANE Select	NP_996816.3:n.10586-123_10586-122insT