Canonical Allele Identifier: CA2747717471

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671319_215671320insAGA , CM000663.2:g.215671319_215671320insAGA	GRCh38
NC_000001.10:g.215844661_215844662insAGA , CM000663.1:g.215844661_215844662insAGA	GRCh37
NC_000001.9:g.213911284_213911285insAGA	NCBI36
NG_009497.1:g.757077_757078insTCT
NG_009497.2:g.757129_757130insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-27_13812-26insTCT MANE Select	ENSP00000305941.3:n.13812-27_13812-26insTCT
ENST00000674083.1:c.13812-27_13812-26insTCT	ENSP00000501296.1:n.13812-27_13812-26insTCT
ENST00000307340.7:c.13812-27_13812-26insTCT	ENSP00000305941.3:n.13812-27_13812-26insTCT
NM_206933.2:c.13812-27_13812-26insTCT	NP_996816.2:n.13812-27_13812-26insTCT
NM_206933.3:c.13812-27_13812-26insTCT	NP_996816.2:n.13812-27_13812-26insTCT
NM_206933.4:c.13812-27_13812-26insTCT MANE Select	NP_996816.3:n.13812-27_13812-26insTCT