Canonical Allele Identifier: CA2747721942

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799239_215799240insCTT , CM000663.2:g.215799239_215799240insCTT	GRCh38
NC_000001.10:g.215972581_215972582insCTT , CM000663.1:g.215972581_215972582insCTT	GRCh37
NC_000001.9:g.214039204_214039205insCTT	NCBI36
NG_009497.1:g.629157_629158insAAG
NG_009497.2:g.629209_629210insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-115_9740-114insAAG MANE Select	ENSP00000305941.3:n.9740-115_9740-114insAAG
ENST00000674083.1:c.9740-115_9740-114insAAG	ENSP00000501296.1:n.9740-115_9740-114insAAG
ENST00000307340.7:c.9740-115_9740-114insAAG	ENSP00000305941.3:n.9740-115_9740-114insAAG
NM_206933.2:c.9740-115_9740-114insAAG	NP_996816.2:n.9740-115_9740-114insAAG
NM_206933.3:c.9740-115_9740-114insAAG	NP_996816.2:n.9740-115_9740-114insAAG
NM_206933.4:c.9740-115_9740-114insAAG MANE Select	NP_996816.3:n.9740-115_9740-114insAAG