Canonical Allele Identifier: CA2747720782

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780133_215780134insACT , CM000663.2:g.215780133_215780134insACT	GRCh38
NC_000001.10:g.215953475_215953476insACT , CM000663.1:g.215953475_215953476insACT	GRCh37
NC_000001.9:g.214020098_214020099insACT	NCBI36
NG_009497.1:g.648263_648264insAGT
NG_009497.2:g.648315_648316insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-93_10741-92insAGT MANE Select	ENSP00000305941.3:n.10741-93_10741-92insAGT
ENST00000674083.1:c.10741-93_10741-92insAGT	ENSP00000501296.1:n.10741-93_10741-92insAGT
ENST00000307340.7:c.10741-93_10741-92insAGT	ENSP00000305941.3:n.10741-93_10741-92insAGT
NM_206933.2:c.10741-93_10741-92insAGT	NP_996816.2:n.10741-93_10741-92insAGT
NM_206933.3:c.10741-93_10741-92insAGT	NP_996816.2:n.10741-93_10741-92insAGT
NM_206933.4:c.10741-93_10741-92insAGT MANE Select	NP_996816.3:n.10741-93_10741-92insAGT