Canonical Allele Identifier: CA2747720920

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780196_215780197insACT , CM000663.2:g.215780196_215780197insACT	GRCh38
NC_000001.10:g.215953538_215953539insACT , CM000663.1:g.215953538_215953539insACT	GRCh37
NC_000001.9:g.214020161_214020162insACT	NCBI36
NG_009497.1:g.648200_648201insAGT
NG_009497.2:g.648252_648253insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-156_10741-155insAGT MANE Select	ENSP00000305941.3:n.10741-156_10741-155insAGT
ENST00000674083.1:c.10741-156_10741-155insAGT	ENSP00000501296.1:n.10741-156_10741-155insAGT
ENST00000307340.7:c.10741-156_10741-155insAGT	ENSP00000305941.3:n.10741-156_10741-155insAGT
NM_206933.2:c.10741-156_10741-155insAGT	NP_996816.2:n.10741-156_10741-155insAGT
NM_206933.3:c.10741-156_10741-155insAGT	NP_996816.2:n.10741-156_10741-155insAGT
NM_206933.4:c.10741-156_10741-155insAGT MANE Select	NP_996816.3:n.10741-156_10741-155insAGT