Canonical Allele Identifier: CA1220426435

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799285_215799287delinsCAA , CM000663.2:g.215799285_215799287delinsCAA	GRCh38
NC_000001.10:g.215972627_215972629delinsCAA , CM000663.1:g.215972627_215972629delinsCAA	GRCh37
NC_000001.9:g.214039250_214039252delinsCAA	NCBI36
NG_009497.1:g.629110_629112delinsTTG
NG_009497.2:g.629162_629164delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-162_9740-160delinsTTG MANE Select	ENSP00000305941.3:n.9740-162_9740-160delinsTTG
ENST00000674083.1:c.9740-162_9740-160delinsTTG	ENSP00000501296.1:n.9740-162_9740-160delinsTTG
ENST00000307340.7:c.9740-162_9740-160delinsTTG	ENSP00000305941.3:n.9740-162_9740-160delinsTTG
NM_206933.2:c.9740-162_9740-160delinsTTG	NP_996816.2:n.9740-162_9740-160delinsTTG
NM_206933.3:c.9740-162_9740-160delinsTTG	NP_996816.2:n.9740-162_9740-160delinsTTG
NM_206933.4:c.9740-162_9740-160delinsTTG MANE Select	NP_996816.3:n.9740-162_9740-160delinsTTG