Canonical Allele Identifier: CA2747717568

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671448_215671449insGTCAG , CM000663.2:g.215671448_215671449insGTCAG	GRCh38
NC_000001.10:g.215844790_215844791insGTCAG , CM000663.1:g.215844790_215844791insGTCAG	GRCh37
NC_000001.9:g.213911413_213911414insGTCAG	NCBI36
NG_009497.1:g.756948_756949insCTGAC
NG_009497.2:g.757000_757001insCTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-156_13812-155insCTGAC MANE Select	ENSP00000305941.3:n.13812-156_13812-155insCTGAC
ENST00000674083.1:c.13812-156_13812-155insCTGAC	ENSP00000501296.1:n.13812-156_13812-155insCTGAC
ENST00000307340.7:c.13812-156_13812-155insCTGAC	ENSP00000305941.3:n.13812-156_13812-155insCTGAC
NM_206933.2:c.13812-156_13812-155insCTGAC	NP_996816.2:n.13812-156_13812-155insCTGAC
NM_206933.3:c.13812-156_13812-155insCTGAC	NP_996816.2:n.13812-156_13812-155insCTGAC
NM_206933.4:c.13812-156_13812-155insCTGAC MANE Select	NP_996816.3:n.13812-156_13812-155insCTGAC