Canonical Allele Identifier: CA2747722521

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817258_215817259insAG , CM000663.2:g.215817258_215817259insAG	GRCh38
NC_000001.10:g.215990600_215990601insAG , CM000663.1:g.215990600_215990601insAG	GRCh37
NC_000001.9:g.214057223_214057224insAG	NCBI36
NG_009497.1:g.611138_611139insCT
NG_009497.2:g.611190_611191insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-64_9372-63insCT MANE Select	ENSP00000305941.3:n.9372-64_9372-63insCT
ENST00000674083.1:c.9372-64_9372-63insCT	ENSP00000501296.1:n.9372-64_9372-63insCT
ENST00000307340.7:c.9372-64_9372-63insCT	ENSP00000305941.3:n.9372-64_9372-63insCT
NM_206933.2:c.9372-64_9372-63insCT	NP_996816.2:n.9372-64_9372-63insCT
NM_206933.3:c.9372-64_9372-63insCT	NP_996816.2:n.9372-64_9372-63insCT
NM_206933.4:c.9372-64_9372-63insCT MANE Select	NP_996816.3:n.9372-64_9372-63insCT