Canonical Allele Identifier: CA2747722554

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817275_215817276insCAG , CM000663.2:g.215817275_215817276insCAG	GRCh38
NC_000001.10:g.215990617_215990618insCAG , CM000663.1:g.215990617_215990618insCAG	GRCh37
NC_000001.9:g.214057240_214057241insCAG	NCBI36
NG_009497.1:g.611121_611122insCTG
NG_009497.2:g.611173_611174insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-81_9372-80insCTG MANE Select	ENSP00000305941.3:n.9372-81_9372-80insCTG
ENST00000674083.1:c.9372-81_9372-80insCTG	ENSP00000501296.1:n.9372-81_9372-80insCTG
ENST00000307340.7:c.9372-81_9372-80insCTG	ENSP00000305941.3:n.9372-81_9372-80insCTG
NM_206933.2:c.9372-81_9372-80insCTG	NP_996816.2:n.9372-81_9372-80insCTG
NM_206933.3:c.9372-81_9372-80insCTG	NP_996816.2:n.9372-81_9372-80insCTG
NM_206933.4:c.9372-81_9372-80insCTG MANE Select	NP_996816.3:n.9372-81_9372-80insCTG