Canonical Allele Identifier: CA2747721948

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799265_215799266insAT , CM000663.2:g.215799265_215799266insAT	GRCh38
NC_000001.10:g.215972607_215972608insAT , CM000663.1:g.215972607_215972608insAT	GRCh37
NC_000001.9:g.214039230_214039231insAT	NCBI36
NG_009497.1:g.629131_629132insAT
NG_009497.2:g.629183_629184insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-141_9740-140insAT MANE Select	ENSP00000305941.3:n.9740-141_9740-140insAT
ENST00000674083.1:c.9740-141_9740-140insAT	ENSP00000501296.1:n.9740-141_9740-140insAT
ENST00000307340.7:c.9740-141_9740-140insAT	ENSP00000305941.3:n.9740-141_9740-140insAT
NM_206933.2:c.9740-141_9740-140insAT	NP_996816.2:n.9740-141_9740-140insAT
NM_206933.3:c.9740-141_9740-140insAT	NP_996816.2:n.9740-141_9740-140insAT
NM_206933.4:c.9740-141_9740-140insAT MANE Select	NP_996816.3:n.9740-141_9740-140insAT