Canonical Allele Identifier: CA2747722598

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817320_215817321insACAC , CM000663.2:g.215817320_215817321insACAC	GRCh38
NC_000001.10:g.215990662_215990663insACAC , CM000663.1:g.215990662_215990663insACAC	GRCh37
NC_000001.9:g.214057285_214057286insACAC	NCBI36
NG_009497.1:g.611076_611077insGTGT
NG_009497.2:g.611128_611129insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-126_9372-125insGTGT MANE Select	ENSP00000305941.3:n.9372-126_9372-125insGTGT
ENST00000674083.1:c.9372-126_9372-125insGTGT	ENSP00000501296.1:n.9372-126_9372-125insGTGT
ENST00000307340.7:c.9372-126_9372-125insGTGT	ENSP00000305941.3:n.9372-126_9372-125insGTGT
NM_206933.2:c.9372-126_9372-125insGTGT	NP_996816.2:n.9372-126_9372-125insGTGT
NM_206933.3:c.9372-126_9372-125insGTGT	NP_996816.2:n.9372-126_9372-125insGTGT
NM_206933.4:c.9372-126_9372-125insGTGT MANE Select	NP_996816.3:n.9372-126_9372-125insGTGT