Canonical Allele Identifier: CA2747729363

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070348_216070349insAG , CM000663.2:g.216070348_216070349insAG	GRCh38
NC_000001.10:g.216243690_216243691insAG , CM000663.1:g.216243690_216243691insAG	GRCh37
NC_000001.9:g.214310313_214310314insAG	NCBI36
NG_009497.1:g.358048_358049insCT
NG_009497.2:g.358100_358101insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-57_5858-56insCT MANE Select	ENSP00000305941.3:n.5858-57_5858-56insCT
ENST00000674083.1:c.5858-57_5858-56insCT	ENSP00000501296.1:n.5858-57_5858-56insCT
ENST00000307340.7:c.5858-57_5858-56insCT	ENSP00000305941.3:n.5858-57_5858-56insCT
NM_206933.2:c.5858-57_5858-56insCT	NP_996816.2:n.5858-57_5858-56insCT
NM_206933.3:c.5858-57_5858-56insCT	NP_996816.2:n.5858-57_5858-56insCT
NM_206933.4:c.5858-57_5858-56insCT MANE Select	NP_996816.3:n.5858-57_5858-56insCT