Canonical Allele Identifier: CA2747717477

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671329_215671332del , CM000663.2:g.215671329_215671332del	GRCh38
NC_000001.10:g.215844671_215844674del , CM000663.1:g.215844671_215844674del	GRCh37
NC_000001.9:g.213911294_213911297del	NCBI36
NG_009497.1:g.757065_757068del
NG_009497.2:g.757117_757120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-39_13812-36del MANE Select	ENSP00000305941.3:n.13812-39_13812-36del
ENST00000674083.1:c.13812-39_13812-36del	ENSP00000501296.1:n.13812-39_13812-36del
ENST00000307340.7:c.13812-39_13812-36del	ENSP00000305941.3:n.13812-39_13812-36del
NM_206933.2:c.13812-39_13812-36del	NP_996816.2:n.13812-39_13812-36del
NM_206933.3:c.13812-39_13812-36del	NP_996816.2:n.13812-39_13812-36del
NM_206933.4:c.13812-39_13812-36del MANE Select	NP_996816.3:n.13812-39_13812-36del