Canonical Allele Identifier: CA2747722525

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817259_215817260insAC , CM000663.2:g.215817259_215817260insAC	GRCh38
NC_000001.10:g.215990601_215990602insAC , CM000663.1:g.215990601_215990602insAC	GRCh37
NC_000001.9:g.214057224_214057225insAC	NCBI36
NG_009497.1:g.611137_611138insGT
NG_009497.2:g.611189_611190insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-65_9372-64insGT MANE Select	ENSP00000305941.3:n.9372-65_9372-64insGT
ENST00000674083.1:c.9372-65_9372-64insGT	ENSP00000501296.1:n.9372-65_9372-64insGT
ENST00000307340.7:c.9372-65_9372-64insGT	ENSP00000305941.3:n.9372-65_9372-64insGT
NM_206933.2:c.9372-65_9372-64insGT	NP_996816.2:n.9372-65_9372-64insGT
NM_206933.3:c.9372-65_9372-64insGT	NP_996816.2:n.9372-65_9372-64insGT
NM_206933.4:c.9372-65_9372-64insGT MANE Select	NP_996816.3:n.9372-65_9372-64insGT