Canonical Allele Identifier: CA2747722572

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817283_215817284insAG , CM000663.2:g.215817283_215817284insAG	GRCh38
NC_000001.10:g.215990625_215990626insAG , CM000663.1:g.215990625_215990626insAG	GRCh37
NC_000001.9:g.214057248_214057249insAG	NCBI36
NG_009497.1:g.611113_611114insCT
NG_009497.2:g.611165_611166insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-89_9372-88insCT MANE Select	ENSP00000305941.3:n.9372-89_9372-88insCT
ENST00000674083.1:c.9372-89_9372-88insCT	ENSP00000501296.1:n.9372-89_9372-88insCT
ENST00000307340.7:c.9372-89_9372-88insCT	ENSP00000305941.3:n.9372-89_9372-88insCT
NM_206933.2:c.9372-89_9372-88insCT	NP_996816.2:n.9372-89_9372-88insCT
NM_206933.3:c.9372-89_9372-88insCT	NP_996816.2:n.9372-89_9372-88insCT
NM_206933.4:c.9372-89_9372-88insCT MANE Select	NP_996816.3:n.9372-89_9372-88insCT