Canonical Allele Identifier: CA2580615224
Gene: FTCD HGNC NCBI

Linked Data

ClinVar Variation Id: 1376953
ClinVar RCV Id: RCV001888248
dbSNP Id: rs2123482286

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46138639_46138641del , CM000683.2:g.46138639_46138641del GRCh38
NC_000021.8:g.47558553_47558555del , CM000683.1:g.47558553_47558555del GRCh37
NC_000021.7:g.46382981_46382983del NCBI36
NG_016191.1:g.21931_21933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460011.6:c.-151_-149del ENSP00000507070.1:n.-151_-149del
ENST00000494498.2:c.48_50del ENSP00000507847.1:p.Ala17del
ENST00000397746.8:c.1314_1316del MANE Select ENSP00000380854.3:p.Ala439del
ENST00000291670.9:c.1314_1316del ENSP00000291670.5:p.Ala439del
ENST00000397743.1:c.1270_1272del ENSP00000380851.1:p.Gly424del
ENST00000397746.7:c.1314_1316del ENSP00000380854.3:p.Ala439del
ENST00000397748.5:c.1314_1316del ENSP00000380856.1:p.Ala439del
ENST00000460011.5:n.643_645del
ENST00000488577.1:n.340_342del
ENST00000494498.1:n.615_617del
ENST00000498355.6:n.1383_1385del
NM_006657.2:c.1314_1316del NP_006648.1:p.Ala439del
NM_206965.1:c.1314_1316del NP_996848.1:p.Ala439del
XM_006723961.2:c.1563_1565del XP_006724024.2:p.Ala522del
XM_006723962.2:c.1563_1565del XP_006724025.2:p.Ala522del
XM_011529434.1:c.1563_1565del XP_011527736.1:p.Ala522del
XM_011529435.1:c.1434_1436del XP_011527737.1:p.Ala479del
XM_011529436.1:c.1563_1565del XP_011527738.1:p.Ala522del
XM_011529437.1:c.1563_1565del XP_011527739.1:p.Ala522del
XM_011529438.1:c.1434_1436del XP_011527740.1:p.Ala479del
XM_011529439.1:c.1050_1052del XP_011527741.1:p.Ala351del
XR_937433.1:n.1746_1748del
NM_001320412.1:c.1314_1316del NP_001307341.1:p.Ala439del
XM_006723961.4:c.1563_1565del XP_006724024.2:p.Ala522del
XM_006723962.4:c.1563_1565del XP_006724025.2:p.Ala522del
XM_011529434.3:c.1563_1565del XP_011527736.1:p.Ala522del
XM_011529435.3:c.1434_1436del XP_011527737.1:p.Ala479del
XM_011529436.3:c.1563_1565del XP_011527738.1:p.Ala522del
XM_011529437.3:c.1563_1565del XP_011527739.1:p.Ala522del
XM_011529439.2:c.1050_1052del XP_011527741.1:p.Ala351del
XR_937433.3:n.1780_1782del
NM_206965.2:c.1314_1316del MANE Select NP_996848.1:p.Ala439del
NM_001320412.2:c.1314_1316del NP_001307341.1:p.Ala439del
NM_006657.3:c.1314_1316del NP_006648.1:p.Ala439del