Canonical Allele Identifier: CA1220416881

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782319_215782324delinsCTATTA , CM000663.2:g.215782319_215782324delinsCTATTA	GRCh38
NC_000001.10:g.215955661_215955666delinsCTATTA , CM000663.1:g.215955661_215955666delinsCTATTA	GRCh37
NC_000001.9:g.214022284_214022289delinsCTATTA	NCBI36
NG_009497.1:g.646073_646078delinsTAATAG
NG_009497.2:g.646125_646130delinsTAATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-128_10586-123delinsTAATAG MANE Select	ENSP00000305941.3:n.10586-128_10586-123delinsTAATAG
ENST00000674083.1:c.10586-128_10586-123delinsTAATAG	ENSP00000501296.1:n.10586-128_10586-123delinsTAATAG
ENST00000307340.7:c.10586-128_10586-123delinsTAATAG	ENSP00000305941.3:n.10586-128_10586-123delinsTAATAG
NM_206933.2:c.10586-128_10586-123delinsTAATAG	NP_996816.2:n.10586-128_10586-123delinsTAATAG
NM_206933.3:c.10586-128_10586-123delinsTAATAG	NP_996816.2:n.10586-128_10586-123delinsTAATAG
NM_206933.4:c.10586-128_10586-123delinsTAATAG MANE Select	NP_996816.3:n.10586-128_10586-123delinsTAATAG