Canonical Allele Identifier: CA1139656230

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 813129
• ClinVar RCV Id: RCV001199603
• dbSNP Id: rs1661098509

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060686_94060687del , CM000663.2:g.94060686_94060687del	GRCh38
NC_000001.10:g.94526242_94526243del , CM000663.1:g.94526242_94526243del	GRCh37
NC_000001.9:g.94298830_94298831del	NCBI36
NG_009073.1:g.65465_65466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2012_2013del MANE Select	ENSP00000359245.3:p.Val671GlufsTer?
ENST00000649773.1:c.2012_2013del	ENSP00000496882.1:p.Val671GlufsTer?
ENST00000370225.3:c.2012_2013del	ENSP00000359245.3:p.Val671GlufsTer?
ENST00000472033.1:n.132_133del
ENST00000536513.5:c.-65+2489_-65+2490del	ENSP00000439707.2:n.-65+2489_-65+2490del
NM_000350.2:c.2012_2013del	NP_000341.2:p.Val671GlufsTer?
NM_000350.3:c.2012_2013del MANE Select	NP_000341.2:p.Val671GlufsTer?