Canonical Allele Identifier: CA2574001638

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640627_215640633del , CM000663.2:g.215640627_215640633del	GRCh38
NC_000001.10:g.215813969_215813975del , CM000663.1:g.215813969_215813975del	GRCh37
NC_000001.9:g.213880592_213880598del	NCBI36
NG_009497.1:g.787764_787770del
NG_009497.2:g.787816_787822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14893_14899del MANE Select	ENSP00000305941.3:p.Val4965ProfsTer?
ENST00000674083.1:c.14893_14899del	ENSP00000501296.1:p.Val4965ProfsTer?
ENST00000307340.7:c.14893_14899del	ENSP00000305941.3:p.Val4965ProfsTer?
NM_206933.2:c.14893_14899del	NP_996816.2:p.Val4965ProfsTer?
NM_206933.3:c.14893_14899del	NP_996816.2:p.Val4965ProfsTer?
NM_206933.4:c.14893_14899del MANE Select	NP_996816.3:p.Val4965ProfsTer?