Canonical Allele Identifier: CA2747729433

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070428_216070429insAGG , CM000663.2:g.216070428_216070429insAGG	GRCh38
NC_000001.10:g.216243770_216243771insAGG , CM000663.1:g.216243770_216243771insAGG	GRCh37
NC_000001.9:g.214310393_214310394insAGG	NCBI36
NG_009497.1:g.357968_357969insCCT
NG_009497.2:g.358020_358021insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-137_5858-136insCCT MANE Select	ENSP00000305941.3:n.5858-137_5858-136insCCT
ENST00000674083.1:c.5858-137_5858-136insCCT	ENSP00000501296.1:n.5858-137_5858-136insCCT
ENST00000307340.7:c.5858-137_5858-136insCCT	ENSP00000305941.3:n.5858-137_5858-136insCCT
NM_206933.2:c.5858-137_5858-136insCCT	NP_996816.2:n.5858-137_5858-136insCCT
NM_206933.3:c.5858-137_5858-136insCCT	NP_996816.2:n.5858-137_5858-136insCCT
NM_206933.4:c.5858-137_5858-136insCCT MANE Select	NP_996816.3:n.5858-137_5858-136insCCT