Canonical Allele Identifier: CA2639575418
Gene: ABCA5 HGNC NCBI

Linked Data

gnomAD v4: 17-69253833-CTGAAGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253836_69253841del , CM000679.2:g.69253836_69253841del GRCh38
NC_000017.10:g.67249977_67249982del , CM000679.1:g.67249977_67249982del GRCh37
NC_000017.9:g.64761572_64761577del NCBI36
NG_034199.1:g.78344_78349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392676.8:c.4275_4280del MANE Select ENSP00000376443.2:p.His1425_Leu1426del
ENST00000392676.7:c.4275_4280del ENSP00000376443.2:p.His1425_Leu1426del
ENST00000586811.1:c.1173_1178del ENSP00000465351.1:p.His391_Leu392del
ENST00000586995.5:c.3337_3342del ENSP00000467251.1:n.3337_3342del
ENST00000588877.5:c.4275_4280del ENSP00000467882.1:p.His1425_Leu1426del
ENST00000591234.5:c.2217_2222del ENSP00000465766.1:n.2217_2222del
NM_018672.4:c.4275_4280del NP_061142.2:p.His1425_Leu1426del
NM_172232.3:c.4275_4280del NP_758424.1:p.His1425_Leu1426del
NM_172232.4:c.4275_4280del MANE Select NP_758424.1:p.His1425_Leu1426del
NM_018672.5:c.4275_4280del NP_061142.2:p.His1425_Leu1426del
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