Canonical Allele Identifier: CA2747721956

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799299_215799300insAG , CM000663.2:g.215799299_215799300insAG	GRCh38
NC_000001.10:g.215972641_215972642insAG , CM000663.1:g.215972641_215972642insAG	GRCh37
NC_000001.9:g.214039264_214039265insAG	NCBI36
NG_009497.1:g.629097_629098insCT
NG_009497.2:g.629149_629150insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-175_9740-174insCT MANE Select	ENSP00000305941.3:n.9740-175_9740-174insCT
ENST00000674083.1:c.9740-175_9740-174insCT	ENSP00000501296.1:n.9740-175_9740-174insCT
ENST00000307340.7:c.9740-175_9740-174insCT	ENSP00000305941.3:n.9740-175_9740-174insCT
NM_206933.2:c.9740-175_9740-174insCT	NP_996816.2:n.9740-175_9740-174insCT
NM_206933.3:c.9740-175_9740-174insCT	NP_996816.2:n.9740-175_9740-174insCT
NM_206933.4:c.9740-175_9740-174insCT MANE Select	NP_996816.3:n.9740-175_9740-174insCT