Canonical Allele Identifier: CA2747722596

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817310_215817311insACC , CM000663.2:g.215817310_215817311insACC	GRCh38
NC_000001.10:g.215990652_215990653insACC , CM000663.1:g.215990652_215990653insACC	GRCh37
NC_000001.9:g.214057275_214057276insACC	NCBI36
NG_009497.1:g.611086_611087insGGT
NG_009497.2:g.611138_611139insGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-116_9372-115insGGT MANE Select	ENSP00000305941.3:n.9372-116_9372-115insGGT
ENST00000674083.1:c.9372-116_9372-115insGGT	ENSP00000501296.1:n.9372-116_9372-115insGGT
ENST00000307340.7:c.9372-116_9372-115insGGT	ENSP00000305941.3:n.9372-116_9372-115insGGT
NM_206933.2:c.9372-116_9372-115insGGT	NP_996816.2:n.9372-116_9372-115insGGT
NM_206933.3:c.9372-116_9372-115insGGT	NP_996816.2:n.9372-116_9372-115insGGT
NM_206933.4:c.9372-116_9372-115insGGT MANE Select	NP_996816.3:n.9372-116_9372-115insGGT