Canonical Allele Identifier: CA2580611177

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 2506637
• ClinVar RCV Id: RCV003237006

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060618_94060624delinsTGAACCAGGT , CM000663.2:g.94060618_94060624delinsTGAACCAGGT	GRCh38
NC_000001.10:g.94526174_94526180delinsTGAACCAGGT , CM000663.1:g.94526174_94526180delinsTGAACCAGGT	GRCh37
NC_000001.9:g.94298762_94298768delinsTGAACCAGGT	NCBI36
NG_009073.1:g.65526_65532delinsACCTGGTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2073_2079delinsACCTGGTTCA MANE Select	ENSP00000359245.3:p.Ser692_Asn693delinsProGlySer
ENST00000649773.1:c.2073_2079delinsACCTGGTTCA	ENSP00000496882.1:p.Ser692_Asn693delinsProGlySer
ENST00000370225.3:c.2073_2079delinsACCTGGTTCA	ENSP00000359245.3:p.Ser692_Asn693delinsProGlySer
ENST00000472033.1:n.193_199delinsACCTGGTTCA
ENST00000536513.5:c.-65+2550_-65+2556delinsACCTGGTTCA	ENSP00000439707.2:n.-65+2550_-65+2556delinsACCTGGTTCA
NM_000350.2:c.2073_2079delinsACCTGGTTCA	NP_000341.2:p.Ser692_Asn693delinsProGlySer
NM_000350.3:c.2073_2079delinsACCTGGTTCA MANE Select	NP_000341.2:p.Ser692_Asn693delinsProGlySer