Canonical Allele Identifier: CA2747722523

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817260_215817264del , CM000663.2:g.215817260_215817264del	GRCh38
NC_000001.10:g.215990602_215990606del , CM000663.1:g.215990602_215990606del	GRCh37
NC_000001.9:g.214057225_214057229del	NCBI36
NG_009497.1:g.611134_611138del
NG_009497.2:g.611186_611190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-68_9372-64del MANE Select	ENSP00000305941.3:n.9372-68_9372-64del
ENST00000674083.1:c.9372-68_9372-64del	ENSP00000501296.1:n.9372-68_9372-64del
ENST00000307340.7:c.9372-68_9372-64del	ENSP00000305941.3:n.9372-68_9372-64del
NM_206933.2:c.9372-68_9372-64del	NP_996816.2:n.9372-68_9372-64del
NM_206933.3:c.9372-68_9372-64del	NP_996816.2:n.9372-68_9372-64del
NM_206933.4:c.9372-68_9372-64del MANE Select	NP_996816.3:n.9372-68_9372-64del