Canonical Allele Identifier: CA2810273584

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253684_69253685insACCAAACACACCCAACACA , CM000679.2:g.69253684_69253685insACCAAACACACCCAACACA	GRCh38
NC_000017.10:g.67249825_67249826insACCAAACACACCCAACACA , CM000679.1:g.67249825_67249826insACCAAACACACCCAACACA	GRCh37
NC_000017.9:g.64761420_64761421insACCAAACACACCCAACACA	NCBI36
NG_034199.1:g.78499_78500insGTGTTGGGTGTGTTTGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT MANE Select	ENSP00000376443.2:n.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT
ENST00000392676.7:c.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT	ENSP00000376443.2:n.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT
ENST00000586811.1:c.1219-17_1219-16insGTGTTGGGTGTGTTTGGTT	ENSP00000465351.1:n.1219-17_1219-16insGTGTTGGGTGTGTTTGGTT
ENST00000586995.5:c.3383-17_3383-16insGTGTTGGGTGTGTTTGGTT	ENSP00000467251.1:n.3383-17_3383-16insGTGTTGGGTGTGTTTGGTT
ENST00000588877.5:c.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT	ENSP00000467882.1:n.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT
ENST00000591234.5:c.2263-17_2263-16insGTGTTGGGTGTGTTTGGTT	ENSP00000465766.1:n.2263-17_2263-16insGTGTTGGGTGTGTTTGGTT
NM_018672.4:c.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT	NP_061142.2:n.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT
NM_172232.3:c.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT	NP_758424.1:n.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT
NM_172232.4:c.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT MANE Select	NP_758424.1:n.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT
NM_018672.5:c.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT	NP_061142.2:n.4321-17_4321-16insGTGTTGGGTGTGTTTGGTT