Canonical Allele Identifier: CA2747717487

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671344_215671345insACA , CM000663.2:g.215671344_215671345insACA	GRCh38
NC_000001.10:g.215844686_215844687insACA , CM000663.1:g.215844686_215844687insACA	GRCh37
NC_000001.9:g.213911309_213911310insACA	NCBI36
NG_009497.1:g.757052_757053insTGT
NG_009497.2:g.757104_757105insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-52_13812-51insTGT MANE Select	ENSP00000305941.3:n.13812-52_13812-51insTGT
ENST00000674083.1:c.13812-52_13812-51insTGT	ENSP00000501296.1:n.13812-52_13812-51insTGT
ENST00000307340.7:c.13812-52_13812-51insTGT	ENSP00000305941.3:n.13812-52_13812-51insTGT
NM_206933.2:c.13812-52_13812-51insTGT	NP_996816.2:n.13812-52_13812-51insTGT
NM_206933.3:c.13812-52_13812-51insTGT	NP_996816.2:n.13812-52_13812-51insTGT
NM_206933.4:c.13812-52_13812-51insTGT MANE Select	NP_996816.3:n.13812-52_13812-51insTGT