Canonical Allele Identifier: CA2639575566

Gene: ABCA5

Linked Data

• gnomAD v4: 17-69253980-TTATTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253983_69253987del , CM000679.2:g.69253983_69253987del	GRCh38
NC_000017.10:g.67250124_67250128del , CM000679.1:g.67250124_67250128del	GRCh37
NC_000017.9:g.64761719_64761723del	NCBI36
NG_034199.1:g.78198_78202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4245-116_4245-112del MANE Select	ENSP00000376443.2:n.4245-116_4245-112del
ENST00000392676.7:c.4245-116_4245-112del	ENSP00000376443.2:n.4245-116_4245-112del
ENST00000586811.1:c.1143-116_1143-112del	ENSP00000465351.1:n.1143-116_1143-112del
ENST00000586995.5:c.3307-116_3307-112del	ENSP00000467251.1:n.3307-116_3307-112del
ENST00000588877.5:c.4245-116_4245-112del	ENSP00000467882.1:n.4245-116_4245-112del
ENST00000591234.5:c.2187-116_2187-112del	ENSP00000465766.1:n.2187-116_2187-112del
NM_018672.4:c.4245-116_4245-112del	NP_061142.2:n.4245-116_4245-112del
NM_172232.3:c.4245-116_4245-112del	NP_758424.1:n.4245-116_4245-112del
NM_172232.4:c.4245-116_4245-112del MANE Select	NP_758424.1:n.4245-116_4245-112del
NM_018672.5:c.4245-116_4245-112del	NP_061142.2:n.4245-116_4245-112del