Canonical Allele Identifier: CA2747722348

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215813924_215813925insACA , CM000663.2:g.215813924_215813925insACA	GRCh38
NC_000001.10:g.215987266_215987267insACA , CM000663.1:g.215987266_215987267insACA	GRCh37
NC_000001.9:g.214053889_214053890insACA	NCBI36
NG_009497.1:g.614472_614473insTGT
NG_009497.2:g.614524_614525insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9571-21_9571-20insTGT MANE Select	ENSP00000305941.3:n.9571-21_9571-20insTGT
ENST00000674083.1:c.9571-21_9571-20insTGT	ENSP00000501296.1:n.9571-21_9571-20insTGT
ENST00000307340.7:c.9571-21_9571-20insTGT	ENSP00000305941.3:n.9571-21_9571-20insTGT
NM_206933.2:c.9571-21_9571-20insTGT	NP_996816.2:n.9571-21_9571-20insTGT
NM_206933.3:c.9571-21_9571-20insTGT	NP_996816.2:n.9571-21_9571-20insTGT
NM_206933.4:c.9571-21_9571-20insTGT MANE Select	NP_996816.3:n.9571-21_9571-20insTGT