Canonical Allele Identifier: CA2576373135

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253912_69253913dup , CM000679.2:g.69253912_69253913dup	GRCh38
NC_000017.10:g.67250053_67250054dup , CM000679.1:g.67250053_67250054dup	GRCh37
NC_000017.9:g.64761648_64761649dup	NCBI36
NG_034199.1:g.78277_78278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4245-37_4245-36dup MANE Select	ENSP00000376443.2:n.4245-37_4245-36dup
ENST00000392676.7:c.4245-37_4245-36dup	ENSP00000376443.2:n.4245-37_4245-36dup
ENST00000586811.1:c.1143-37_1143-36dup	ENSP00000465351.1:n.1143-37_1143-36dup
ENST00000586995.5:c.3307-37_3307-36dup	ENSP00000467251.1:n.3307-37_3307-36dup
ENST00000588877.5:c.4245-37_4245-36dup	ENSP00000467882.1:n.4245-37_4245-36dup
ENST00000591234.5:c.2187-37_2187-36dup	ENSP00000465766.1:n.2187-37_2187-36dup
NM_018672.4:c.4245-37_4245-36dup	NP_061142.2:n.4245-37_4245-36dup
NM_172232.3:c.4245-37_4245-36dup	NP_758424.1:n.4245-37_4245-36dup
NM_172232.4:c.4245-37_4245-36dup MANE Select	NP_758424.1:n.4245-37_4245-36dup
NM_018672.5:c.4245-37_4245-36dup	NP_061142.2:n.4245-37_4245-36dup