Canonical Allele Identifier: CA1220414906

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780176_215780177delinsCT , CM000663.2:g.215780176_215780177delinsCT	GRCh38
NC_000001.10:g.215953518_215953519delinsCT , CM000663.1:g.215953518_215953519delinsCT	GRCh37
NC_000001.9:g.214020141_214020142delinsCT	NCBI36
NG_009497.1:g.648220_648221delinsAG
NG_009497.2:g.648272_648273delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-136_10741-135delinsAG MANE Select	ENSP00000305941.3:n.10741-136_10741-135delinsAG
ENST00000674083.1:c.10741-136_10741-135delinsAG	ENSP00000501296.1:n.10741-136_10741-135delinsAG
ENST00000307340.7:c.10741-136_10741-135delinsAG	ENSP00000305941.3:n.10741-136_10741-135delinsAG
NM_206933.2:c.10741-136_10741-135delinsAG	NP_996816.2:n.10741-136_10741-135delinsAG
NM_206933.3:c.10741-136_10741-135delinsAG	NP_996816.2:n.10741-136_10741-135delinsAG
NM_206933.4:c.10741-136_10741-135delinsAG MANE Select	NP_996816.3:n.10741-136_10741-135delinsAG