Canonical Allele Identifier: CA1220416762

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782186_215782197delinsAATAATAGGACC , CM000663.2:g.215782186_215782197delinsAATAATAGGACC	GRCh38
NC_000001.10:g.215955528_215955539delinsAATAATAGGACC , CM000663.1:g.215955528_215955539delinsAATAATAGGACC	GRCh37
NC_000001.9:g.214022151_214022162delinsAATAATAGGACC	NCBI36
NG_009497.1:g.646200_646211delinsGGTCCTATTATT
NG_009497.2:g.646252_646263delinsGGTCCTATTATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.10586-1_10596delinsGGTCCTATTATT
ENST00000674083.1:c.10586-1_10596delinsGGTCCTATTATT
ENST00000307340.7:c.10586-1_10596delinsGGTCCTATTATT
NM_206933.2:c.10586-1_10596delinsGGTCCTATTATT
NM_206933.3:c.10586-1_10596delinsGGTCCTATTATT
NM_206933.4:c.10586-1_10596delinsGGTCCTATTATT