Canonical Allele Identifier: CA2747720754

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780114_215780115insACA , CM000663.2:g.215780114_215780115insACA	GRCh38
NC_000001.10:g.215953456_215953457insACA , CM000663.1:g.215953456_215953457insACA	GRCh37
NC_000001.9:g.214020079_214020080insACA	NCBI36
NG_009497.1:g.648282_648283insTGT
NG_009497.2:g.648334_648335insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-74_10741-73insTGT MANE Select	ENSP00000305941.3:n.10741-74_10741-73insTGT
ENST00000674083.1:c.10741-74_10741-73insTGT	ENSP00000501296.1:n.10741-74_10741-73insTGT
ENST00000307340.7:c.10741-74_10741-73insTGT	ENSP00000305941.3:n.10741-74_10741-73insTGT
NM_206933.2:c.10741-74_10741-73insTGT	NP_996816.2:n.10741-74_10741-73insTGT
NM_206933.3:c.10741-74_10741-73insTGT	NP_996816.2:n.10741-74_10741-73insTGT
NM_206933.4:c.10741-74_10741-73insTGT MANE Select	NP_996816.3:n.10741-74_10741-73insTGT