Canonical Allele Identifier: CA2810273591

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69254015del , CM000679.2:g.69254015del	GRCh38
NC_000017.10:g.67250156del , CM000679.1:g.67250156del	GRCh37
NC_000017.9:g.64761751del	NCBI36
NG_034199.1:g.78170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4245-144del MANE Select	ENSP00000376443.2:n.4245-144del
ENST00000392676.7:c.4245-144del	ENSP00000376443.2:n.4245-144del
ENST00000586811.1:c.1143-144del	ENSP00000465351.1:n.1143-144del
ENST00000586995.5:c.3307-144del	ENSP00000467251.1:n.3307-144del
ENST00000588877.5:c.4245-144del	ENSP00000467882.1:n.4245-144del
ENST00000591234.5:c.2187-144del	ENSP00000465766.1:n.2187-144del
NM_018672.4:c.4245-144del	NP_061142.2:n.4245-144del
NM_172232.3:c.4245-144del	NP_758424.1:n.4245-144del
NM_172232.4:c.4245-144del MANE Select	NP_758424.1:n.4245-144del
NM_018672.5:c.4245-144del	NP_061142.2:n.4245-144del