Canonical Allele Identifier: CA16609401
Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 397530
ClinVar RCV Id: RCV000449624
dbSNP Id: rs1060499663

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38416015del , CM000670.2:g.38416015del GRCh38
NC_000008.10:g.38273533del , CM000670.1:g.38273533del GRCh37
NC_000008.9:g.38392690del NCBI36
NG_007729.1:g.57822del

Transcript Alleles

HGVS Amino-acid change
ENST00000703405.1:c.1711del ENSP00000515291.1:p.Glu571SerfsTer?
ENST00000341462.9:c.1699del ENSP00000340636.7:p.Glu567SerfsTer?
ENST00000425967.8:c.1699del ENSP00000393312.4:p.Glu567SerfsTer?
ENST00000524528.2:n.2604del
ENST00000682398.1:n.533del
ENST00000683132.1:n.401del
ENST00000683765.1:c.1891del ENSP00000507039.1:p.Glu631SerfsTer?
ENST00000683815.1:c.1699del ENSP00000507997.1:p.Glu567SerfsTer?
ENST00000683948.1:n.2399del
ENST00000684654.1:c.1432del ENSP00000507205.1:p.Glu478SerfsTer?
ENST00000447712.7:c.1711del MANE Select ENSP00000400162.2:p.Glu571SerfsTer?
ENST00000649678.1:c.1699del ENSP00000497266.1:p.Glu567SerfsTer?
ENST00000674189.1:c.*1357del ENSP00000501345.1:n.*1357del
ENST00000674380.1:c.*1678del ENSP00000501514.1:n.*1678del
ENST00000674474.1:n.3205del
ENST00000326324.10:c.1438del ENSP00000327229.6:p.Glu480SerfsTer?
ENST00000335922.9:c.1681del ENSP00000337247.5:p.Glu561SerfsTer?
ENST00000341462.8:c.*761del ENSP00000340636.6:n.*761del
ENST00000356207.9:c.1444del ENSP00000348537.5:p.Glu482SerfsTer?
ENST00000397091.9:c.1705del ENSP00000380280.5:p.Glu569SerfsTer?
ENST00000397103.5:c.1444del ENSP00000380292.1:p.Glu482SerfsTer?
ENST00000397108.8:c.1705del ENSP00000380297.4:p.Glu569SerfsTer?
ENST00000397113.6:c.1705del ENSP00000380302.2:p.Glu569SerfsTer?
ENST00000425967.7:c.1804del ENSP00000393312.3:p.Glu602SerfsTer?
ENST00000447712.6:c.1711del ENSP00000400162.2:p.Glu571SerfsTer?
ENST00000487647.5:c.1588del ENSP00000435254.1:n.1588del
ENST00000526570.5:n.3990del
ENST00000527114.5:n.1233del
ENST00000532791.5:c.1705del ENSP00000432972.1:p.Glu569SerfsTer?
ENST00000533619.5:n.257del
ENST00000619564.3:c.*606del ENSP00000484553.1:n.*606del
NM_001174063.1:c.1705del NP_001167534.1:p.Glu569SerfsTer?
NM_001174064.1:c.1681del NP_001167535.1:p.Glu561SerfsTer?
NM_001174065.1:c.1705del NP_001167536.1:p.Glu569SerfsTer?
NM_001174066.1:c.1444del NP_001167537.1:p.Glu482SerfsTer?
NM_001174067.1:c.1804del NP_001167538.1:p.Glu602SerfsTer?
NM_015850.3:c.1705del NP_056934.2:p.Glu569SerfsTer?
NM_023105.2:c.1444del NP_075593.1:p.Glu482SerfsTer?
NM_023106.2:c.1438del NP_075594.1:p.Glu480SerfsTer?
NM_023110.2:c.1711del NP_075598.2:p.Glu571SerfsTer?
XM_006716303.2:c.1711del XP_006716366.1:p.Glu571SerfsTer?
XM_006716304.1:c.1711del XP_006716367.1:p.Glu571SerfsTer?
XM_006716305.2:c.1711del XP_006716368.1:p.Glu571SerfsTer?
XM_006716306.2:c.1705del XP_006716369.1:p.Glu569SerfsTer?
XM_006716307.1:c.1705del XP_006716370.1:p.Glu569SerfsTer?
XM_006716309.2:c.1687del XP_006716372.1:p.Glu563SerfsTer?
XM_006716310.2:c.1444del XP_006716373.1:p.Glu482SerfsTer?
XM_006716311.1:c.1444del XP_006716374.1:p.Glu482SerfsTer?
XM_006716312.1:c.1444del XP_006716375.1:p.Glu482SerfsTer?
XM_006716313.2:c.1438del XP_006716376.1:p.Glu480SerfsTer?
XM_006716314.1:c.1438del XP_006716377.1:p.Glu480SerfsTer?
XM_011544443.1:c.1810del XP_011542745.1:p.Glu604SerfsTer?
XM_011544444.1:c.1804del XP_011542746.1:p.Glu602SerfsTer?
XM_011544445.1:c.1804del XP_011542747.1:p.Glu602SerfsTer?
XM_011544446.1:c.1810del XP_011542748.1:p.Glu604SerfsTer?
XM_011544447.1:c.1804del XP_011542749.1:p.Glu602SerfsTer?
XM_011544448.1:c.1543del XP_011542750.1:p.Glu515SerfsTer?
XM_011544449.1:c.1537del XP_011542751.1:p.Glu513SerfsTer?
XM_011544450.1:c.1537del XP_011542752.1:p.Glu513SerfsTer?
XM_011544451.1:c.1420del XP_011542753.1:p.Glu474SerfsTer?
NM_001354367.1:c.1705del NP_001341296.1:p.Glu569SerfsTer?
NM_001354368.1:c.1432del NP_001341297.1:p.Glu478SerfsTer?
NM_001354369.1:c.1699del NP_001341298.1:p.Glu567SerfsTer?
NM_001354370.1:c.1438del NP_001341299.1:p.Glu480SerfsTer?
XM_006716303.3:c.1711del XP_006716366.1:p.Glu571SerfsTer?
XM_006716310.3:c.1444del XP_006716373.1:p.Glu482SerfsTer?
XM_006716312.2:c.1444del XP_006716375.1:p.Glu482SerfsTer?
XM_006716314.2:c.1438del XP_006716377.1:p.Glu480SerfsTer?
XM_011544443.2:c.1810del XP_011542745.1:p.Glu604SerfsTer?
XM_011544445.2:c.1804del XP_011542747.1:p.Glu602SerfsTer?
XM_011544446.2:c.1810del XP_011542748.1:p.Glu604SerfsTer?
XM_011544447.2:c.1804del XP_011542749.1:p.Glu602SerfsTer?
XM_011544450.2:c.1537del XP_011542752.1:p.Glu513SerfsTer?
XM_017013219.1:c.1798del XP_016868708.1:p.Glu600SerfsTer?
XM_017013220.1:c.1798del XP_016868709.1:p.Glu600SerfsTer?
XM_017013221.1:c.1711del XP_016868710.1:p.Glu571SerfsTer?
XM_017013222.2:c.1705del XP_016868711.1:p.Glu569SerfsTer?
XM_017013224.2:c.1699del XP_016868713.1:p.Glu567SerfsTer?
XM_017013225.2:c.1699del XP_016868714.1:p.Glu567SerfsTer?
XM_017013226.1:c.1537del XP_016868715.1:p.Glu513SerfsTer?
XM_017013227.1:c.1531del XP_016868716.1:p.Glu511SerfsTer?
XM_017013229.2:c.739del XP_016868718.1:p.Glu247SerfsTer?
XM_017013230.1:c.739del XP_016868719.1:p.Glu247SerfsTer?
XM_024447097.1:c.1687del XP_024302865.1:p.Glu563SerfsTer?
XR_001745495.1:n.1959del
XR_001745496.1:n.1959del
NM_001174063.2:c.1705del NP_001167534.1:p.Glu569SerfsTer?
NM_001174064.2:c.1681del NP_001167535.1:p.Glu561SerfsTer?
NM_001174065.2:c.1705del NP_001167536.1:p.Glu569SerfsTer?
NM_001174066.2:c.1444del NP_001167537.1:p.Glu482SerfsTer?
NM_001354368.2:c.1432del NP_001341297.1:p.Glu478SerfsTer?
NM_015850.4:c.1705del NP_056934.2:p.Glu569SerfsTer?
NM_023105.3:c.1444del NP_075593.1:p.Glu482SerfsTer?
NM_023106.3:c.1438del NP_075594.1:p.Glu480SerfsTer?
NM_023110.3:c.1711del MANE Select NP_075598.2:p.Glu571SerfsTer?
NM_001174067.2:c.1804del NP_001167538.1:p.Glu602SerfsTer?
NM_001354367.2:c.1705del NP_001341296.1:p.Glu569SerfsTer?
NM_001354369.2:c.1699del NP_001341298.1:p.Glu567SerfsTer?
NM_001354370.2:c.1438del NP_001341299.1:p.Glu480SerfsTer?