Canonical Allele Identifier: CA2747722579

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817286_215817287insA , CM000663.2:g.215817286_215817287insA	GRCh38
NC_000001.10:g.215990628_215990629insA , CM000663.1:g.215990628_215990629insA	GRCh37
NC_000001.9:g.214057251_214057252insA	NCBI36
NG_009497.1:g.611110_611111insT
NG_009497.2:g.611162_611163insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-92_9372-91insT MANE Select	ENSP00000305941.3:n.9372-92_9372-91insT
ENST00000674083.1:c.9372-92_9372-91insT	ENSP00000501296.1:n.9372-92_9372-91insT
ENST00000307340.7:c.9372-92_9372-91insT	ENSP00000305941.3:n.9372-92_9372-91insT
NM_206933.2:c.9372-92_9372-91insT	NP_996816.2:n.9372-92_9372-91insT
NM_206933.3:c.9372-92_9372-91insT	NP_996816.2:n.9372-92_9372-91insT
NM_206933.4:c.9372-92_9372-91insT MANE Select	NP_996816.3:n.9372-92_9372-91insT