Canonical Allele Identifier: CA2597428747

Gene: ABCA5

Linked Data

• gnomAD v3: 17-69253737-TC-T
• gnomAD v4: 17-69253737-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253738del , CM000679.2:g.69253738del	GRCh38
NC_000017.10:g.67249879del , CM000679.1:g.67249879del	GRCh37
NC_000017.9:g.64761474del	NCBI36
NG_034199.1:g.78445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4320+56del MANE Select	ENSP00000376443.2:n.4320+56del
ENST00000392676.7:c.4320+56del	ENSP00000376443.2:n.4320+56del
ENST00000586811.1:c.1218+56del	ENSP00000465351.1:n.1218+56del
ENST00000586995.5:c.3382+56del	ENSP00000467251.1:n.3382+56del
ENST00000588877.5:c.4320+56del	ENSP00000467882.1:n.4320+56del
ENST00000591234.5:c.2262+56del	ENSP00000465766.1:n.2262+56del
NM_018672.4:c.4320+56del	NP_061142.2:n.4320+56del
NM_172232.3:c.4320+56del	NP_758424.1:n.4320+56del
NM_172232.4:c.4320+56del MANE Select	NP_758424.1:n.4320+56del
NM_018672.5:c.4320+56del	NP_061142.2:n.4320+56del