Canonical Allele Identifier: CA1220426419

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799265_215799266delinsGC , CM000663.2:g.215799265_215799266delinsGC	GRCh38
NC_000001.10:g.215972607_215972608delinsGC , CM000663.1:g.215972607_215972608delinsGC	GRCh37
NC_000001.9:g.214039230_214039231delinsGC	NCBI36
NG_009497.1:g.629131_629132delinsGC
NG_009497.2:g.629183_629184delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-141_9740-140delinsGC MANE Select	ENSP00000305941.3:n.9740-141_9740-140delinsGC
ENST00000674083.1:c.9740-141_9740-140delinsGC	ENSP00000501296.1:n.9740-141_9740-140delinsGC
ENST00000307340.7:c.9740-141_9740-140delinsGC	ENSP00000305941.3:n.9740-141_9740-140delinsGC
NM_206933.2:c.9740-141_9740-140delinsGC	NP_996816.2:n.9740-141_9740-140delinsGC
NM_206933.3:c.9740-141_9740-140delinsGC	NP_996816.2:n.9740-141_9740-140delinsGC
NM_206933.4:c.9740-141_9740-140delinsGC MANE Select	NP_996816.3:n.9740-141_9740-140delinsGC