Canonical Allele Identifier: CA540890831
Gene: FANCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10032866_10032869del , CM000665.2:g.10032866_10032869del GRCh38
NC_000003.11:g.10074550_10074553del , CM000665.1:g.10074550_10074553del GRCh37
NC_000003.10:g.10049550_10049553del NCBI36
NG_007311.1:g.11438_11441del , LRG_306:g.11438_11441del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682647.1:c.*107_*110del ENSP00000506736.1:n.*107_*110del
ENST00000675286.1:c.99_102del MANE Select ENSP00000502379.1:p.Lys33AsnfsTer16
ENST00000676013.1:c.99_102del ENSP00000501999.1:p.Lys33AsnfsTer16
ENST00000287647.7:c.99_102del ENSP00000287647.3:p.Lys33AsnfsTer16
ENST00000383807.5:c.99_102del ENSP00000373318.1:p.Lys33AsnfsTer16
ENST00000419585.5:c.99_102del ENSP00000398754.1:p.Lys33AsnfsTer16
ENST00000431693.1:c.99_102del ENSP00000399354.1:p.Lys33AsnfsTer16
ENST00000435522.5:c.*107_*110del ENSP00000402166.1:n.*107_*110del
NM_001018115.1:c.99_102del , LRG_306t1:c.99_102del NP_001018125.1:p.Lys33AsnfsTer16
NM_033084.3:c.99_102del , LRG_306t2:c.99_102del NP_149075.2:p.Lys33AsnfsTer16
XM_005264946.2:c.99_102del XP_005265003.1:p.Lys33AsnfsTer16
XM_006713021.2:c.99_102del XP_006713084.1:p.Lys33AsnfsTer16
XM_006713023.2:c.99_102del XP_006713086.1:p.Lys33AsnfsTer16
XM_006713024.2:c.99_102del XP_006713087.1:p.Lys33AsnfsTer16
XM_011533479.1:c.99_102del XP_011531781.1:p.Lys33AsnfsTer16
XR_940391.1:n.219_222del
NM_001018115.2:c.99_102del NP_001018125.1:p.Lys33AsnfsTer16
NM_001319984.1:c.99_102del NP_001306913.1:p.Lys33AsnfsTer16
NM_033084.4:c.99_102del NP_149075.2:p.Lys33AsnfsTer16
NM_001018115.3:c.99_102del MANE Select NP_001018125.1:p.Lys33AsnfsTer16
NM_001319984.2:c.99_102del NP_001306913.1:p.Lys33AsnfsTer16
NM_001374253.1:c.99_102del NP_001361182.1:p.Lys33AsnfsTer16
NM_001374254.1:c.99_102del NP_001361183.1:p.Lys33AsnfsTer16
NM_001374255.1:c.99_102del NP_001361184.1:p.Lys33AsnfsTer16
NM_033084.6:c.99_102del NP_149075.2:p.Lys33AsnfsTer16