Canonical Allele Identifier: CA1140552915

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782391_215782392delinsAA , CM000663.2:g.215782391_215782392delinsAA	GRCh38
NC_000001.10:g.215955733_215955734delinsAA , CM000663.1:g.215955733_215955734delinsAA	GRCh37
NC_000001.9:g.214022356_214022357delinsAA	NCBI36
NG_009497.1:g.646005_646006delinsTT
NG_009497.2:g.646057_646058delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-196_10586-195delinsTT MANE Select	ENSP00000305941.3:n.10586-196_10586-195delinsTT
ENST00000674083.1:c.10586-196_10586-195delinsTT	ENSP00000501296.1:n.10586-196_10586-195delinsTT
ENST00000307340.7:c.10586-196_10586-195delinsTT	ENSP00000305941.3:n.10586-196_10586-195delinsTT
NM_206933.2:c.10586-196_10586-195delinsTT	NP_996816.2:n.10586-196_10586-195delinsTT
NM_206933.3:c.10586-196_10586-195delinsTT	NP_996816.2:n.10586-196_10586-195delinsTT
NM_206933.4:c.10586-196_10586-195delinsTT MANE Select	NP_996816.3:n.10586-196_10586-195delinsTT