Canonical Allele Identifier: CA1181422708

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047209_94047213delinsGCTAT , CM000663.2:g.94047209_94047213delinsGCTAT	GRCh38
NC_000001.10:g.94512765_94512769delinsGCTAT , CM000663.1:g.94512765_94512769delinsGCTAT	GRCh37
NC_000001.9:g.94285353_94285357delinsGCTAT	NCBI36
NG_009073.1:g.78937_78941delinsATAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-120_2744-116delinsATAGC MANE Select	ENSP00000359245.3:n.2744-120_2744-116delinsATAGC
ENST00000649773.1:c.2522-120_2522-116delinsATAGC	ENSP00000496882.1:n.2522-120_2522-116delinsATAGC
ENST00000370225.3:c.2744-120_2744-116delinsATAGC	ENSP00000359245.3:n.2744-120_2744-116delinsATAGC
ENST00000536513.5:c.-64-7124_-64-7120delinsATAGC	ENSP00000439707.2:n.-64-7124_-64-7120delinsATAGC
NM_000350.2:c.2744-120_2744-116delinsATAGC	NP_000341.2:n.2744-120_2744-116delinsATAGC
NM_000350.3:c.2744-120_2744-116delinsATAGC MANE Select	NP_000341.2:n.2744-120_2744-116delinsATAGC