Canonical Allele Identifier: CA2747721954

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799292_215799293insAG , CM000663.2:g.215799292_215799293insAG	GRCh38
NC_000001.10:g.215972634_215972635insAG , CM000663.1:g.215972634_215972635insAG	GRCh37
NC_000001.9:g.214039257_214039258insAG	NCBI36
NG_009497.1:g.629104_629105insCT
NG_009497.2:g.629156_629157insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-168_9740-167insCT MANE Select	ENSP00000305941.3:n.9740-168_9740-167insCT
ENST00000674083.1:c.9740-168_9740-167insCT	ENSP00000501296.1:n.9740-168_9740-167insCT
ENST00000307340.7:c.9740-168_9740-167insCT	ENSP00000305941.3:n.9740-168_9740-167insCT
NM_206933.2:c.9740-168_9740-167insCT	NP_996816.2:n.9740-168_9740-167insCT
NM_206933.3:c.9740-168_9740-167insCT	NP_996816.2:n.9740-168_9740-167insCT
NM_206933.4:c.9740-168_9740-167insCT MANE Select	NP_996816.3:n.9740-168_9740-167insCT