Canonical Allele Identifier: CA1777533193
Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3027171
ClinVar RCV Id: RCV003887564
dbSNP Id: rs1815201038

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38413767del , CM000670.2:g.38413767del GRCh38
NC_000008.10:g.38271285del , CM000670.1:g.38271285del GRCh37
NC_000008.9:g.38390442del NCBI36
NG_007729.1:g.60072del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703405.1:c.2334del ENSP00000515291.1:p.Ser779AlafsTer?
ENST00000341462.9:c.2280+155del ENSP00000340636.7:n.2280+155del
ENST00000425967.8:c.2280+155del ENSP00000393312.4:n.2280+155del
ENST00000524528.2:n.3227del
ENST00000682398.1:n.1574del
ENST00000683132.1:n.1137del
ENST00000683765.1:c.2472+155del ENSP00000507039.1:n.2472+155del
ENST00000683815.1:c.2322del ENSP00000507997.1:p.Ser775AlafsTer?
ENST00000683948.1:n.3022del
ENST00000684654.1:c.2055del ENSP00000507205.1:p.Ser686AlafsTer?
ENST00000447712.7:c.2334del MANE Select ENSP00000400162.2:p.Ser779AlafsTer?
ENST00000649678.1:c.2322del ENSP00000497266.1:p.Ser775AlafsTer?
ENST00000674189.1:c.*1938+155del ENSP00000501345.1:n.*1938+155del
ENST00000674380.1:c.*2301del ENSP00000501514.1:n.*2301del
ENST00000674474.1:n.3828del
ENST00000326324.10:c.2061del ENSP00000327229.6:p.Ser688AlafsTer?
ENST00000335922.9:c.2304del ENSP00000337247.5:p.Ser769AlafsTer?
ENST00000341462.8:c.*1384del ENSP00000340636.6:n.*1384del
ENST00000356207.9:c.2067del ENSP00000348537.5:p.Ser690AlafsTer?
ENST00000397091.9:c.2328del ENSP00000380280.5:p.Ser777AlafsTer?
ENST00000397103.5:c.2067del ENSP00000380292.1:p.Ser690AlafsTer?
ENST00000397108.8:c.2328del ENSP00000380297.4:p.Ser777AlafsTer?
ENST00000397113.6:c.2328del ENSP00000380302.2:p.Ser777AlafsTer?
ENST00000425967.7:c.2427del ENSP00000393312.3:p.Ser810AlafsTer?
ENST00000447712.6:c.2334del ENSP00000400162.2:p.Ser779AlafsTer?
ENST00000526570.5:n.4613del
ENST00000526688.1:n.59+155del
ENST00000531196.5:c.545del ENSP00000434800.1:n.545del
ENST00000532791.5:c.2328del ENSP00000432972.1:p.Ser777AlafsTer?
ENST00000619564.3:c.*1229del ENSP00000484553.1:n.*1229del
NM_001174063.1:c.2328del NP_001167534.1:p.Ser777AlafsTer?
NM_001174064.1:c.2304del NP_001167535.1:p.Ser769AlafsTer?
NM_001174065.1:c.2328del NP_001167536.1:p.Ser777AlafsTer?
NM_001174066.1:c.2067del NP_001167537.1:p.Ser690AlafsTer?
NM_001174067.1:c.2427del NP_001167538.1:p.Ser810AlafsTer?
NM_015850.3:c.2328del NP_056934.2:p.Ser777AlafsTer?
NM_023105.2:c.2067del NP_075593.1:p.Ser690AlafsTer?
NM_023106.2:c.2061del NP_075594.1:p.Ser688AlafsTer?
NM_023110.2:c.2334del NP_075598.2:p.Ser779AlafsTer?
XM_006716303.2:c.2292+155del XP_006716366.1:n.2292+155del
XM_006716304.1:c.2292+155del XP_006716367.1:n.2292+155del
XM_006716305.2:c.2292+155del XP_006716368.1:n.2292+155del
XM_006716306.2:c.2286+155del XP_006716369.1:n.2286+155del
XM_006716307.1:c.2286+155del XP_006716370.1:n.2286+155del
XM_006716309.2:c.2268+155del XP_006716372.1:n.2268+155del
XM_006716310.2:c.2025+155del XP_006716373.1:n.2025+155del
XM_006716311.1:c.2025+155del XP_006716374.1:n.2025+155del
XM_006716312.1:c.2025+155del XP_006716375.1:n.2025+155del
XM_006716313.2:c.2019+155del XP_006716376.1:n.2019+155del
XM_006716314.1:c.2019+155del XP_006716377.1:n.2019+155del
XM_011544443.1:c.2391+155del XP_011542745.1:n.2391+155del
XM_011544444.1:c.2385+155del XP_011542746.1:n.2385+155del
XM_011544445.1:c.2385+155del XP_011542747.1:n.2385+155del
XM_011544446.1:c.2433del XP_011542748.1:p.Ser812AlafsTer?
XM_011544447.1:c.2427del XP_011542749.1:p.Ser810AlafsTer?
XM_011544448.1:c.2124+155del XP_011542750.1:n.2124+155del
XM_011544449.1:c.2118+155del XP_011542751.1:n.2118+155del
XM_011544450.1:c.2160del XP_011542752.1:p.Ser721AlafsTer?
XM_011544451.1:c.2001+155del XP_011542753.1:n.2001+155del
NM_001354367.1:c.2286+155del NP_001341296.1:n.2286+155del
NM_001354368.1:c.2055del NP_001341297.1:p.Ser686AlafsTer?
NM_001354369.1:c.2280+155del NP_001341298.1:n.2280+155del
NM_001354370.1:c.2019+155del NP_001341299.1:n.2019+155del
XM_006716303.3:c.2292+155del XP_006716366.1:n.2292+155del
XM_006716310.3:c.2025+155del XP_006716373.1:n.2025+155del
XM_006716312.2:c.2025+155del XP_006716375.1:n.2025+155del
XM_006716314.2:c.2019+155del XP_006716377.1:n.2019+155del
XM_011544443.2:c.2391+155del XP_011542745.1:n.2391+155del
XM_011544445.2:c.2385+155del XP_011542747.1:n.2385+155del
XM_011544446.2:c.2433del XP_011542748.1:p.Ser812AlafsTer?
XM_011544447.2:c.2427del XP_011542749.1:p.Ser810AlafsTer?
XM_011544450.2:c.2160del XP_011542752.1:p.Ser721AlafsTer?
XM_017013219.1:c.2379+155del XP_016868708.1:n.2379+155del
XM_017013220.1:c.2421del XP_016868709.1:p.Ser808AlafsTer?
XM_017013221.1:c.2292+155del XP_016868710.1:n.2292+155del
XM_017013222.2:c.2286+155del XP_016868711.1:n.2286+155del
XM_017013224.2:c.2322del XP_016868713.1:p.Ser775AlafsTer?
XM_017013225.2:c.2322del XP_016868714.1:p.Ser775AlafsTer?
XM_017013226.1:c.2160del XP_016868715.1:p.Ser721AlafsTer?
XM_017013227.1:c.2154del XP_016868716.1:p.Ser719AlafsTer?
XM_017013229.2:c.1320+155del XP_016868718.1:n.1320+155del
XM_017013230.1:c.1362del XP_016868719.1:p.Ser455AlafsTer?
XM_024447097.1:c.2268+155del XP_024302865.1:n.2268+155del
XR_001745495.1:n.2607del
XR_001745496.1:n.2565+155del
NM_001174063.2:c.2328del NP_001167534.1:p.Ser777AlafsTer?
NM_001174064.2:c.2304del NP_001167535.1:p.Ser769AlafsTer?
NM_001174065.2:c.2328del NP_001167536.1:p.Ser777AlafsTer?
NM_001174066.2:c.2067del NP_001167537.1:p.Ser690AlafsTer?
NM_001354368.2:c.2055del NP_001341297.1:p.Ser686AlafsTer?
NM_015850.4:c.2328del NP_056934.2:p.Ser777AlafsTer?
NM_023105.3:c.2067del NP_075593.1:p.Ser690AlafsTer?
NM_023106.3:c.2061del NP_075594.1:p.Ser688AlafsTer?
NM_023110.3:c.2334del MANE Select NP_075598.2:p.Ser779AlafsTer?
NM_001174067.2:c.2427del NP_001167538.1:p.Ser810AlafsTer?
NM_001354367.2:c.2286+155del NP_001341296.1:n.2286+155del
NM_001354369.2:c.2280+155del NP_001341298.1:n.2280+155del
NM_001354370.2:c.2019+155del NP_001341299.1:n.2019+155del