Canonical Allele Identifier: CA2838248706
Gene: SCFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30722013_30722014insAAAA , CM000676.2:g.30722013_30722014insAAAA GRCh38
NC_000014.8:g.31191219_31191220insAAAA , CM000676.1:g.31191219_31191220insAAAA GRCh37
NC_000014.7:g.30260970_30260971insAAAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458591.7:c.1770+96_1770+97insAAAA MANE Select ENSP00000390783.2:n.1770+96_1770+97insAAAA
ENST00000553693.6:c.1210-13573_1210-13572insAAAA ENSP00000452308.2:n.1210-13573_1210-13572insAAAA
ENST00000554437.6:c.*231+96_*231+97insAAAA ENSP00000450546.2:n.*231+96_*231+97insAAAA
ENST00000557076.6:c.1383+96_1383+97insAAAA ENSP00000450755.2:n.1383+96_1383+97insAAAA
ENST00000676465.1:c.*1393+96_*1393+97insAAAA ENSP00000503575.1:n.*1393+96_*1393+97insAAAA
ENST00000676473.1:c.*1258+96_*1258+97insAAAA ENSP00000504489.1:n.*1258+96_*1258+97insAAAA
ENST00000676509.1:c.1767+96_1767+97insAAAA ENSP00000504739.1:n.1767+96_1767+97insAAAA
ENST00000676520.1:c.1293+96_1293+97insAAAA ENSP00000504658.1:n.1293+96_1293+97insAAAA
ENST00000676658.1:c.1770+96_1770+97insAAAA ENSP00000503347.1:n.1770+96_1770+97insAAAA
ENST00000676674.1:c.1215+96_1215+97insAAAA ENSP00000502860.1:n.1215+96_1215+97insAAAA
ENST00000676750.1:n.2381+96_2381+97insAAAA
ENST00000676812.1:c.1680+96_1680+97insAAAA ENSP00000504504.1:n.1680+96_1680+97insAAAA
ENST00000676817.1:n.2034+96_2034+97insAAAA
ENST00000676834.1:c.*226+96_*226+97insAAAA ENSP00000503338.1:n.*226+96_*226+97insAAAA
ENST00000676876.1:c.*1421+96_*1421+97insAAAA ENSP00000503666.1:n.*1421+96_*1421+97insAAAA
ENST00000676914.1:c.*150+96_*150+97insAAAA ENSP00000504271.1:n.*150+96_*150+97insAAAA
ENST00000676954.1:c.*226+96_*226+97insAAAA ENSP00000504250.1:n.*226+96_*226+97insAAAA
ENST00000677176.1:c.*772+96_*772+97insAAAA ENSP00000504074.1:n.*772+96_*772+97insAAAA
ENST00000677334.1:n.3603+96_3603+97insAAAA
ENST00000677340.1:c.1692+96_1692+97insAAAA ENSP00000504124.1:n.1692+96_1692+97insAAAA
ENST00000677413.1:c.1560+96_1560+97insAAAA ENSP00000503070.1:n.1560+96_1560+97insAAAA
ENST00000677456.1:c.*775+96_*775+97insAAAA ENSP00000503191.1:n.*775+96_*775+97insAAAA
ENST00000677576.1:n.1893+96_1893+97insAAAA
ENST00000677617.1:n.3799+96_3799+97insAAAA
ENST00000677637.1:c.*775+96_*775+97insAAAA ENSP00000504375.1:n.*775+96_*775+97insAAAA
ENST00000677690.1:c.*1190+96_*1190+97insAAAA ENSP00000504114.1:n.*1190+96_*1190+97insAAAA
ENST00000677833.1:n.1493+96_1493+97insAAAA
ENST00000677974.1:c.*1461+96_*1461+97insAAAA ENSP00000503716.1:n.*1461+96_*1461+97insAAAA
ENST00000678104.1:n.1701+96_1701+97insAAAA
ENST00000678124.1:c.1569+96_1569+97insAAAA ENSP00000503029.1:n.1569+96_1569+97insAAAA
ENST00000678396.1:c.*1453+96_*1453+97insAAAA ENSP00000503724.1:n.*1453+96_*1453+97insAAAA
ENST00000678399.1:c.*193+96_*193+97insAAAA ENSP00000504310.1:n.*193+96_*193+97insAAAA
ENST00000678402.1:c.1647+96_1647+97insAAAA ENSP00000503444.1:n.1647+96_1647+97insAAAA
ENST00000678475.1:c.*653+96_*653+97insAAAA ENSP00000504339.1:n.*653+96_*653+97insAAAA
ENST00000678516.1:n.3909+96_3909+97insAAAA
ENST00000678579.1:c.1203+96_1203+97insAAAA ENSP00000503776.1:n.1203+96_1203+97insAAAA
ENST00000678669.1:c.1620+96_1620+97insAAAA ENSP00000504126.1:n.1620+96_1620+97insAAAA
ENST00000678716.1:c.1293+96_1293+97insAAAA ENSP00000503125.1:n.1293+96_1293+97insAAAA
ENST00000678735.1:n.3701+96_3701+97insAAAA
ENST00000678760.1:c.*573+96_*573+97insAAAA ENSP00000504309.1:n.*573+96_*573+97insAAAA
ENST00000678802.1:n.3842+96_3842+97insAAAA
ENST00000678858.1:n.3830+96_3830+97insAAAA
ENST00000679075.1:c.*3362+96_*3362+97insAAAA ENSP00000504582.1:n.*3362+96_*3362+97insAAAA
ENST00000679096.1:c.*2213+96_*2213+97insAAAA ENSP00000503433.1:n.*2213+96_*2213+97insAAAA
ENST00000679102.1:c.*226+96_*226+97insAAAA ENSP00000503287.1:n.*226+96_*226+97insAAAA
ENST00000679153.1:n.3829+96_3829+97insAAAA
ENST00000679165.1:c.1683+6036_1683+6037insAAAA ENSP00000503787.1:n.1683+6036_1683+6037insAAAA
ENST00000679342.1:c.*699+96_*699+97insAAAA ENSP00000504420.1:n.*699+96_*699+97insAAAA
ENST00000311943.11:c.*1190+96_*1190+97insAAAA ENSP00000309417.7:n.*1190+96_*1190+97insAAAA
ENST00000396629.6:c.1494+96_1494+97insAAAA ENSP00000379870.2:n.1494+96_1494+97insAAAA
ENST00000458591.6:c.1770+96_1770+97insAAAA ENSP00000390783.2:n.1770+96_1770+97insAAAA
ENST00000463622.6:c.*1534+96_*1534+97insAAAA ENSP00000451298.1:n.*1534+96_*1534+97insAAAA
ENST00000484733.6:c.*1641+96_*1641+97insAAAA ENSP00000452178.1:n.*1641+96_*1641+97insAAAA
ENST00000544052.6:c.1569+96_1569+97insAAAA ENSP00000443010.2:n.1569+96_1569+97insAAAA
ENST00000554437.5:c.339+96_339+97insAAAA ENSP00000450546.1:n.339+96_339+97insAAAA
ENST00000555550.1:n.192+96_192+97insAAAA
ENST00000556256.1:n.216+96_216+97insAAAA
ENST00000556486.5:n.767+96_767+97insAAAA
ENST00000556768.5:c.*1240+96_*1240+97insAAAA ENSP00000451811.1:n.*1240+96_*1240+97insAAAA
NM_001257376.1:c.1494+96_1494+97insAAAA NP_001244305.1:n.1494+96_1494+97insAAAA
NM_001283031.1:c.1215+96_1215+97insAAAA NP_001269960.1:n.1215+96_1215+97insAAAA
NM_001283032.1:c.1593+96_1593+97insAAAA NP_001269961.1:n.1593+96_1593+97insAAAA
NM_001283033.1:c.1215+96_1215+97insAAAA NP_001269962.1:n.1215+96_1215+97insAAAA
NM_016106.3:c.1770+96_1770+97insAAAA NP_057190.2:n.1770+96_1770+97insAAAA
NM_182835.2:c.1569+96_1569+97insAAAA NP_878255.1:n.1569+96_1569+97insAAAA
XM_005267469.1:c.1695+96_1695+97insAAAA XP_005267526.1:n.1695+96_1695+97insAAAA
XR_429299.1:n.1772+96_1772+97insAAAA
XM_005267469.2:c.1695+96_1695+97insAAAA XP_005267526.1:n.1695+96_1695+97insAAAA
XR_001750201.1:n.1643+96_1643+97insAAAA
XR_001750202.2:n.3920+96_3920+97insAAAA
XR_002957538.1:n.1967+96_1967+97insAAAA
XR_002957539.1:n.1756+96_1756+97insAAAA
XR_002957540.1:n.3584+96_3584+97insAAAA
XR_429299.3:n.1714+96_1714+97insAAAA
NM_016106.4:c.1770+96_1770+97insAAAA MANE Select NP_057190.2:n.1770+96_1770+97insAAAA