Canonical Allele Identifier: CA2747717502

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671364_215671365insACTA , CM000663.2:g.215671364_215671365insACTA	GRCh38
NC_000001.10:g.215844706_215844707insACTA , CM000663.1:g.215844706_215844707insACTA	GRCh37
NC_000001.9:g.213911329_213911330insACTA	NCBI36
NG_009497.1:g.757032_757033insTAGT
NG_009497.2:g.757084_757085insTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-72_13812-71insTAGT MANE Select	ENSP00000305941.3:n.13812-72_13812-71insTAGT
ENST00000674083.1:c.13812-72_13812-71insTAGT	ENSP00000501296.1:n.13812-72_13812-71insTAGT
ENST00000307340.7:c.13812-72_13812-71insTAGT	ENSP00000305941.3:n.13812-72_13812-71insTAGT
NM_206933.2:c.13812-72_13812-71insTAGT	NP_996816.2:n.13812-72_13812-71insTAGT
NM_206933.3:c.13812-72_13812-71insTAGT	NP_996816.2:n.13812-72_13812-71insTAGT
NM_206933.4:c.13812-72_13812-71insTAGT MANE Select	NP_996816.3:n.13812-72_13812-71insTAGT