Canonical Allele Identifier: CA16042721
Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373103
ClinVar RCV Id: RCV000414346
dbSNP Id: rs1057518218
MyVariant Identifiers: chr8:g.38273468_38273478del (hg19) chr8:g.38415950_38415960del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38415955_38415965del , CM000670.2:g.38415955_38415965del GRCh38
NC_000008.10:g.38273473_38273483del , CM000670.1:g.38273473_38273483del GRCh37
NC_000008.9:g.38392630_38392640del NCBI36
NG_007729.1:g.57875_57885del

Transcript Alleles

HGVS Amino-acid change
ENST00000703405.1:c.1764_1774del ENSP00000515291.1:p.Ser588ArgfsTer?
ENST00000341462.9:c.1752_1762del ENSP00000340636.7:p.Ser584ArgfsTer?
ENST00000425967.8:c.1752_1762del ENSP00000393312.4:p.Ser584ArgfsTer?
ENST00000524528.2:n.2657_2667del
ENST00000682398.1:n.586_596del
ENST00000683132.1:n.454_464del
ENST00000683765.1:c.1944_1954del ENSP00000507039.1:p.Ser648ArgfsTer?
ENST00000683815.1:c.1752_1762del ENSP00000507997.1:p.Ser584ArgfsTer?
ENST00000683948.1:n.2452_2462del
ENST00000684654.1:c.1485_1495del ENSP00000507205.1:p.Ser495ArgfsTer?
ENST00000447712.7:c.1764_1774del MANE Select ENSP00000400162.2:p.Ser588ArgfsTer?
ENST00000649678.1:c.1752_1762del ENSP00000497266.1:p.Ser584ArgfsTer?
ENST00000674189.1:c.*1410_*1420del ENSP00000501345.1:n.*1410_*1420del
ENST00000674380.1:c.*1731_*1741del ENSP00000501514.1:n.*1731_*1741del
ENST00000674474.1:n.3258_3268del
ENST00000326324.10:c.1491_1501del ENSP00000327229.6:p.Ser497ArgfsTer?
ENST00000335922.9:c.1734_1744del ENSP00000337247.5:p.Ser578ArgfsTer?
ENST00000341462.8:c.*814_*824del ENSP00000340636.6:n.*814_*824del
ENST00000356207.9:c.1497_1507del ENSP00000348537.5:p.Ser499ArgfsTer?
ENST00000397091.9:c.1758_1768del ENSP00000380280.5:p.Ser586ArgfsTer?
ENST00000397103.5:c.1497_1507del ENSP00000380292.1:p.Ser499ArgfsTer?
ENST00000397108.8:c.1758_1768del ENSP00000380297.4:p.Ser586ArgfsTer?
ENST00000397113.6:c.1758_1768del ENSP00000380302.2:p.Ser586ArgfsTer?
ENST00000425967.7:c.1857_1867del ENSP00000393312.3:p.Ser619ArgfsTer?
ENST00000447712.6:c.1764_1774del ENSP00000400162.2:p.Ser588ArgfsTer?
ENST00000526570.5:n.4043_4053del
ENST00000527114.5:n.1286_1296del
ENST00000532791.5:c.1758_1768del ENSP00000432972.1:p.Ser586ArgfsTer?
ENST00000533619.5:n.310_320del
ENST00000619564.3:c.*659_*669del ENSP00000484553.1:n.*659_*669del
NM_001174063.1:c.1758_1768del NP_001167534.1:p.Ser586ArgfsTer?
NM_001174064.1:c.1734_1744del NP_001167535.1:p.Ser578ArgfsTer?
NM_001174065.1:c.1758_1768del NP_001167536.1:p.Ser586ArgfsTer?
NM_001174066.1:c.1497_1507del NP_001167537.1:p.Ser499ArgfsTer?
NM_001174067.1:c.1857_1867del NP_001167538.1:p.Ser619ArgfsTer?
NM_015850.3:c.1758_1768del NP_056934.2:p.Ser586ArgfsTer?
NM_023105.2:c.1497_1507del NP_075593.1:p.Ser499ArgfsTer?
NM_023106.2:c.1491_1501del NP_075594.1:p.Ser497ArgfsTer?
NM_023110.2:c.1764_1774del NP_075598.2:p.Ser588ArgfsTer?
XM_006716303.2:c.1764_1774del XP_006716366.1:p.Ser588ArgfsTer?
XM_006716304.1:c.1764_1774del XP_006716367.1:p.Ser588ArgfsTer?
XM_006716305.2:c.1764_1774del XP_006716368.1:p.Ser588ArgfsTer?
XM_006716306.2:c.1758_1768del XP_006716369.1:p.Ser586ArgfsTer?
XM_006716307.1:c.1758_1768del XP_006716370.1:p.Ser586ArgfsTer?
XM_006716309.2:c.1740_1750del XP_006716372.1:p.Ser580ArgfsTer?
XM_006716310.2:c.1497_1507del XP_006716373.1:p.Ser499ArgfsTer?
XM_006716311.1:c.1497_1507del XP_006716374.1:p.Ser499ArgfsTer?
XM_006716312.1:c.1497_1507del XP_006716375.1:p.Ser499ArgfsTer?
XM_006716313.2:c.1491_1501del XP_006716376.1:p.Ser497ArgfsTer?
XM_006716314.1:c.1491_1501del XP_006716377.1:p.Ser497ArgfsTer?
XM_011544443.1:c.1863_1873del XP_011542745.1:p.Ser621ArgfsTer?
XM_011544444.1:c.1857_1867del XP_011542746.1:p.Ser619ArgfsTer?
XM_011544445.1:c.1857_1867del XP_011542747.1:p.Ser619ArgfsTer?
XM_011544446.1:c.1863_1873del XP_011542748.1:p.Ser621ArgfsTer?
XM_011544447.1:c.1857_1867del XP_011542749.1:p.Ser619ArgfsTer?
XM_011544448.1:c.1596_1606del XP_011542750.1:p.Ser532ArgfsTer?
XM_011544449.1:c.1590_1600del XP_011542751.1:p.Ser530ArgfsTer?
XM_011544450.1:c.1590_1600del XP_011542752.1:p.Ser530ArgfsTer?
XM_011544451.1:c.1473_1483del XP_011542753.1:p.Ser491ArgfsTer?
NM_001354367.1:c.1758_1768del NP_001341296.1:p.Ser586ArgfsTer?
NM_001354368.1:c.1485_1495del NP_001341297.1:p.Ser495ArgfsTer?
NM_001354369.1:c.1752_1762del NP_001341298.1:p.Ser584ArgfsTer?
NM_001354370.1:c.1491_1501del NP_001341299.1:p.Ser497ArgfsTer?
XM_006716303.3:c.1764_1774del XP_006716366.1:p.Ser588ArgfsTer?
XM_006716310.3:c.1497_1507del XP_006716373.1:p.Ser499ArgfsTer?
XM_006716312.2:c.1497_1507del XP_006716375.1:p.Ser499ArgfsTer?
XM_006716314.2:c.1491_1501del XP_006716377.1:p.Ser497ArgfsTer?
XM_011544443.2:c.1863_1873del XP_011542745.1:p.Ser621ArgfsTer?
XM_011544445.2:c.1857_1867del XP_011542747.1:p.Ser619ArgfsTer?
XM_011544446.2:c.1863_1873del XP_011542748.1:p.Ser621ArgfsTer?
XM_011544447.2:c.1857_1867del XP_011542749.1:p.Ser619ArgfsTer?
XM_011544450.2:c.1590_1600del XP_011542752.1:p.Ser530ArgfsTer?
XM_017013219.1:c.1851_1861del XP_016868708.1:p.Ser617ArgfsTer?
XM_017013220.1:c.1851_1861del XP_016868709.1:p.Ser617ArgfsTer?
XM_017013221.1:c.1764_1774del XP_016868710.1:p.Ser588ArgfsTer?
XM_017013222.2:c.1758_1768del XP_016868711.1:p.Ser586ArgfsTer?
XM_017013224.2:c.1752_1762del XP_016868713.1:p.Ser584ArgfsTer?
XM_017013225.2:c.1752_1762del XP_016868714.1:p.Ser584ArgfsTer?
XM_017013226.1:c.1590_1600del XP_016868715.1:p.Ser530ArgfsTer?
XM_017013227.1:c.1584_1594del XP_016868716.1:p.Ser528ArgfsTer?
XM_017013229.2:c.792_802del XP_016868718.1:p.Ser264ArgfsTer?
XM_017013230.1:c.792_802del XP_016868719.1:p.Ser264ArgfsTer?
XM_024447097.1:c.1740_1750del XP_024302865.1:p.Ser580ArgfsTer?
XR_001745495.1:n.2012_2022del
XR_001745496.1:n.2012_2022del
NM_001174063.2:c.1758_1768del NP_001167534.1:p.Ser586ArgfsTer?
NM_001174064.2:c.1734_1744del NP_001167535.1:p.Ser578ArgfsTer?
NM_001174065.2:c.1758_1768del NP_001167536.1:p.Ser586ArgfsTer?
NM_001174066.2:c.1497_1507del NP_001167537.1:p.Ser499ArgfsTer?
NM_001354368.2:c.1485_1495del NP_001341297.1:p.Ser495ArgfsTer?
NM_015850.4:c.1758_1768del NP_056934.2:p.Ser586ArgfsTer?
NM_023105.3:c.1497_1507del NP_075593.1:p.Ser499ArgfsTer?
NM_023106.3:c.1491_1501del NP_075594.1:p.Ser497ArgfsTer?
NM_023110.3:c.1764_1774del MANE Select NP_075598.2:p.Ser588ArgfsTer?
NM_001174067.2:c.1857_1867del NP_001167538.1:p.Ser619ArgfsTer?
NM_001354367.2:c.1758_1768del NP_001341296.1:p.Ser586ArgfsTer?
NM_001354369.2:c.1752_1762del NP_001341298.1:p.Ser584ArgfsTer?
NM_001354370.2:c.1491_1501del NP_001341299.1:p.Ser497ArgfsTer?
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