Canonical Allele Identifier: CA2747721938

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799234_215799235insAG , CM000663.2:g.215799234_215799235insAG	GRCh38
NC_000001.10:g.215972576_215972577insAG , CM000663.1:g.215972576_215972577insAG	GRCh37
NC_000001.9:g.214039199_214039200insAG	NCBI36
NG_009497.1:g.629162_629163insCT
NG_009497.2:g.629214_629215insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-110_9740-109insCT MANE Select	ENSP00000305941.3:n.9740-110_9740-109insCT
ENST00000674083.1:c.9740-110_9740-109insCT	ENSP00000501296.1:n.9740-110_9740-109insCT
ENST00000307340.7:c.9740-110_9740-109insCT	ENSP00000305941.3:n.9740-110_9740-109insCT
NM_206933.2:c.9740-110_9740-109insCT	NP_996816.2:n.9740-110_9740-109insCT
NM_206933.3:c.9740-110_9740-109insCT	NP_996816.2:n.9740-110_9740-109insCT
NM_206933.4:c.9740-110_9740-109insCT MANE Select	NP_996816.3:n.9740-110_9740-109insCT