Canonical Allele Identifier: CA2838373381

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69254219dup , CM000679.2:g.69254219dup	GRCh38
NC_000017.10:g.67250360dup , CM000679.1:g.67250360dup	GRCh37
NC_000017.9:g.64761955dup	NCBI36
NG_034199.1:g.77964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4244+96dup MANE Select	ENSP00000376443.2:n.4244+96dup
ENST00000392676.7:c.4244+96dup	ENSP00000376443.2:n.4244+96dup
ENST00000586811.1:c.1142+96dup	ENSP00000465351.1:n.1142+96dup
ENST00000586995.5:c.3306+96dup	ENSP00000467251.1:n.3306+96dup
ENST00000588877.5:c.4244+96dup	ENSP00000467882.1:n.4244+96dup
ENST00000591234.5:c.2186+96dup	ENSP00000465766.1:n.2186+96dup
NM_018672.4:c.4244+96dup	NP_061142.2:n.4244+96dup
NM_172232.3:c.4244+96dup	NP_758424.1:n.4244+96dup
NM_172232.4:c.4244+96dup MANE Select	NP_758424.1:n.4244+96dup
NM_018672.5:c.4244+96dup	NP_061142.2:n.4244+96dup