Canonical Allele Identifier: CA1220432948

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215813906_215813908delinsTGA , CM000663.2:g.215813906_215813908delinsTGA	GRCh38
NC_000001.10:g.215987248_215987250delinsTGA , CM000663.1:g.215987248_215987250delinsTGA	GRCh37
NC_000001.9:g.214053871_214053873delinsTGA	NCBI36
NG_009497.1:g.614489_614491delinsTCA
NG_009497.2:g.614541_614543delinsTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.9571-4_9571-2delinsTCA MANE Select	ENSP00000305941.3:n.9571-4_9571-2delinsTCA
ENST00000674083.1:c.9571-4_9571-2delinsTCA	ENSP00000501296.1:n.9571-4_9571-2delinsTCA
ENST00000307340.7:c.9571-4_9571-2delinsTCA	ENSP00000305941.3:n.9571-4_9571-2delinsTCA
NM_206933.2:c.9571-4_9571-2delinsTCA	NP_996816.2:n.9571-4_9571-2delinsTCA
NM_206933.3:c.9571-4_9571-2delinsTCA	NP_996816.2:n.9571-4_9571-2delinsTCA
NM_206933.4:c.9571-4_9571-2delinsTCA MANE Select	NP_996816.3:n.9571-4_9571-2delinsTCA