Canonical Allele Identifier: CA1181427958

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060410_94060411delinsAG , CM000663.2:g.94060410_94060411delinsAG	GRCh38
NC_000001.10:g.94525966_94525967delinsAG , CM000663.1:g.94525966_94525967delinsAG	GRCh37
NC_000001.9:g.94298554_94298555delinsAG	NCBI36
NG_009073.1:g.65739_65740delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2160+126_2160+127delinsCT MANE Select	ENSP00000359245.3:n.2160+126_2160+127delinsCT
ENST00000649773.1:c.2160+126_2160+127delinsCT	ENSP00000496882.1:n.2160+126_2160+127delinsCT
ENST00000370225.3:c.2160+126_2160+127delinsCT	ENSP00000359245.3:n.2160+126_2160+127delinsCT
ENST00000472033.1:n.280+126_280+127delinsCT
ENST00000536513.5:c.-65+2763_-65+2764delinsCT	ENSP00000439707.2:n.-65+2763_-65+2764delinsCT
NM_000350.2:c.2160+126_2160+127delinsCT	NP_000341.2:n.2160+126_2160+127delinsCT
NM_000350.3:c.2160+126_2160+127delinsCT MANE Select	NP_000341.2:n.2160+126_2160+127delinsCT