Canonical Allele Identifier: CA2747721022

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782269_215782270insAGA , CM000663.2:g.215782269_215782270insAGA	GRCh38
NC_000001.10:g.215955611_215955612insAGA , CM000663.1:g.215955611_215955612insAGA	GRCh37
NC_000001.9:g.214022234_214022235insAGA	NCBI36
NG_009497.1:g.646127_646128insTCT
NG_009497.2:g.646179_646180insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-74_10586-73insTCT MANE Select	ENSP00000305941.3:n.10586-74_10586-73insTCT
ENST00000674083.1:c.10586-74_10586-73insTCT	ENSP00000501296.1:n.10586-74_10586-73insTCT
ENST00000307340.7:c.10586-74_10586-73insTCT	ENSP00000305941.3:n.10586-74_10586-73insTCT
NM_206933.2:c.10586-74_10586-73insTCT	NP_996816.2:n.10586-74_10586-73insTCT
NM_206933.3:c.10586-74_10586-73insTCT	NP_996816.2:n.10586-74_10586-73insTCT
NM_206933.4:c.10586-74_10586-73insTCT MANE Select	NP_996816.3:n.10586-74_10586-73insTCT