Canonical Allele Identifier: CA1141189276
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782187_215782197delinsATAATAGGACC , CM000663.2:g.215782187_215782197delinsATAATAGGACC GRCh38
NC_000001.10:g.215955529_215955539delinsATAATAGGACC , CM000663.1:g.215955529_215955539delinsATAATAGGACC GRCh37
NC_000001.9:g.214022152_214022162delinsATAATAGGACC NCBI36
NG_009497.1:g.646200_646210delinsGGTCCTATTAT
NG_009497.2:g.646252_646262delinsGGTCCTATTAT

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10586-1_10595delinsGGTCCTATTAT
ENST00000674083.1:c.10586-1_10595delinsGGTCCTATTAT
ENST00000307340.7:c.10586-1_10595delinsGGTCCTATTAT
NM_206933.2:c.10586-1_10595delinsGGTCCTATTAT
NM_206933.3:c.10586-1_10595delinsGGTCCTATTAT
NM_206933.4:c.10586-1_10595delinsGGTCCTATTAT