Canonical Allele Identifier: CA2744618303

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046798_94046799insAGCCCTGTGGCCGGCCAGCTGTGGACCGTCTGAACATCACCTTCTACGAGAACCAGATCACCGCATTCCT , CM000663.2:g.94046798_94046799insAGCCCTGTGGCCGGCCAGCTGTGGACCGTCTGAACATCACCTTCTACGAGAACCAGATCACCGCATTCCT	GRCh38
NC_000001.10:g.94512354_94512355insAGCCCTGTGGCCGGCCAGCTGTGGACCGTCTGAACATCACCTTCTACGAGAACCAGATCACCGCATTCCT , CM000663.1:g.94512354_94512355insAGCCCTGTGGCCGGCCAGCTGTGGACCGTCTGAACATCACCTTCTACGAGAACCAGATCACCGCATTCCT	GRCh37
NC_000001.9:g.94284942_94284943insAGCCCTGTGGCCGGCCAGCTGTGGACCGTCTGAACATCACCTTCTACGAGAACCAGATCACCGCATTCCT	NCBI36
NG_009073.1:g.79351_79352insAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2918+120_2918+121insAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCT MANE Select	ENSP00000359245.3:n.2918+120_2918+121insA...
ENST00000649773.1:c.2696+120_2696+121insAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCT	ENSP00000496882.1:n.2696+120_2696+121insA...
ENST00000370225.3:c.2918+120_2918+121insAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCT	ENSP00000359245.3:n.2918+120_2918+121insA...
ENST00000536513.5:c.-64-6710_-64-6709insAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCT	ENSP00000439707.2:n.-64-6710_-64-6709insA...
NM_000350.2:c.2918+120_2918+121insAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCT	NP_000341.2:n.2918+120_2918+121insAGGAATG...
NM_000350.3:c.2918+120_2918+121insAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCT MANE Select	NP_000341.2:n.2918+120_2918+121insAGGAATG...