Canonical Allele Identifier: CA2533284718

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782477_215782494del , CM000663.2:g.215782477_215782494del	GRCh38
NC_000001.10:g.215955819_215955836del , CM000663.1:g.215955819_215955836del	GRCh37
NC_000001.9:g.214022442_214022459del	NCBI36
NG_009497.1:g.645903_645920del
NG_009497.2:g.645955_645972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10585+244_10585+261del MANE Select	ENSP00000305941.3:n.10585+244_10585+261del
ENST00000674083.1:c.10585+244_10585+261del	ENSP00000501296.1:n.10585+244_10585+261del
ENST00000307340.7:c.10585+244_10585+261del	ENSP00000305941.3:n.10585+244_10585+261del
NM_206933.2:c.10585+244_10585+261del	NP_996816.2:n.10585+244_10585+261del
NM_206933.3:c.10585+244_10585+261del	NP_996816.2:n.10585+244_10585+261del
NM_206933.4:c.10585+244_10585+261del MANE Select	NP_996816.3:n.10585+244_10585+261del