Canonical Allele Identifier: CA2272580203

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253733_69253735delinsAAT , CM000679.2:g.69253733_69253735delinsAAT	GRCh38
NC_000017.10:g.67249874_67249876delinsAAT , CM000679.1:g.67249874_67249876delinsAAT	GRCh37
NC_000017.9:g.64761469_64761471delinsAAT	NCBI36
NG_034199.1:g.78448_78450delinsATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000392676.8:c.4320+59_4320+61delinsATT MANE Select	ENSP00000376443.2:n.4320+59_4320+61delinsATT
ENST00000392676.7:c.4320+59_4320+61delinsATT	ENSP00000376443.2:n.4320+59_4320+61delinsATT
ENST00000586811.1:c.1218+59_1218+61delinsATT	ENSP00000465351.1:n.1218+59_1218+61delinsATT
ENST00000586995.5:c.3382+59_3382+61delinsATT	ENSP00000467251.1:n.3382+59_3382+61delinsATT
ENST00000588877.5:c.4320+59_4320+61delinsATT	ENSP00000467882.1:n.4320+59_4320+61delinsATT
ENST00000591234.5:c.2262+59_2262+61delinsATT	ENSP00000465766.1:n.2262+59_2262+61delinsATT
NM_018672.4:c.4320+59_4320+61delinsATT	NP_061142.2:n.4320+59_4320+61delinsATT
NM_172232.3:c.4320+59_4320+61delinsATT	NP_758424.1:n.4320+59_4320+61delinsATT
NM_172232.4:c.4320+59_4320+61delinsATT MANE Select	NP_758424.1:n.4320+59_4320+61delinsATT
NM_018672.5:c.4320+59_4320+61delinsATT	NP_061142.2:n.4320+59_4320+61delinsATT