Canonical Allele Identifier: CA2747729389

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070371_216070372del , CM000663.2:g.216070371_216070372del	GRCh38
NC_000001.10:g.216243713_216243714del , CM000663.1:g.216243713_216243714del	GRCh37
NC_000001.9:g.214310336_214310337del	NCBI36
NG_009497.1:g.358025_358026del
NG_009497.2:g.358077_358078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-80_5858-79del MANE Select	ENSP00000305941.3:n.5858-80_5858-79del
ENST00000674083.1:c.5858-80_5858-79del	ENSP00000501296.1:n.5858-80_5858-79del
ENST00000307340.7:c.5858-80_5858-79del	ENSP00000305941.3:n.5858-80_5858-79del
NM_206933.2:c.5858-80_5858-79del	NP_996816.2:n.5858-80_5858-79del
NM_206933.3:c.5858-80_5858-79del	NP_996816.2:n.5858-80_5858-79del
NM_206933.4:c.5858-80_5858-79del MANE Select	NP_996816.3:n.5858-80_5858-79del