Canonical Allele Identifier: CA2747720768

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780127_215780128insACAG , CM000663.2:g.215780127_215780128insACAG	GRCh38
NC_000001.10:g.215953469_215953470insACAG , CM000663.1:g.215953469_215953470insACAG	GRCh37
NC_000001.9:g.214020092_214020093insACAG	NCBI36
NG_009497.1:g.648269_648270insCTGT
NG_009497.2:g.648321_648322insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-87_10741-86insCTGT MANE Select	ENSP00000305941.3:n.10741-87_10741-86insCTGT
ENST00000674083.1:c.10741-87_10741-86insCTGT	ENSP00000501296.1:n.10741-87_10741-86insCTGT
ENST00000307340.7:c.10741-87_10741-86insCTGT	ENSP00000305941.3:n.10741-87_10741-86insCTGT
NM_206933.2:c.10741-87_10741-86insCTGT	NP_996816.2:n.10741-87_10741-86insCTGT
NM_206933.3:c.10741-87_10741-86insCTGT	NP_996816.2:n.10741-87_10741-86insCTGT
NM_206933.4:c.10741-87_10741-86insCTGT MANE Select	NP_996816.3:n.10741-87_10741-86insCTGT