Canonical Allele Identifier: CA2580614536
Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2505405
ClinVar RCV Id: RCV003234673

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38414020_38414021dup , CM000670.2:g.38414020_38414021dup GRCh38
NC_000008.10:g.38271538_38271539dup , CM000670.1:g.38271538_38271539dup GRCh37
NC_000008.9:g.38390695_38390696dup NCBI36
NG_007729.1:g.59815_59816dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703405.1:c.2190_2191dup ENSP00000515291.1:p.Met731ThrfsTer2
ENST00000341462.9:c.2178_2179dup ENSP00000340636.7:p.Met727ThrfsTer2
ENST00000425967.8:c.2178_2179dup ENSP00000393312.4:p.Met727ThrfsTer2
ENST00000524528.2:n.3083_3084dup
ENST00000682398.1:n.1430_1431dup
ENST00000683132.1:n.880_881dup
ENST00000683765.1:c.2370_2371dup ENSP00000507039.1:p.Met791ThrfsTer2
ENST00000683815.1:c.2178_2179dup ENSP00000507997.1:p.Met727ThrfsTer2
ENST00000683948.1:n.2878_2879dup
ENST00000684654.1:c.1911_1912dup ENSP00000507205.1:p.Met638ThrfsTer2
ENST00000447712.7:c.2190_2191dup MANE Select ENSP00000400162.2:p.Met731ThrfsTer2
ENST00000649678.1:c.2178_2179dup ENSP00000497266.1:p.Met727ThrfsTer2
ENST00000674189.1:c.*1836_*1837dup ENSP00000501345.1:n.*1836_*1837dup
ENST00000674380.1:c.*2157_*2158dup ENSP00000501514.1:n.*2157_*2158dup
ENST00000674474.1:n.3684_3685dup
ENST00000326324.10:c.1917_1918dup ENSP00000327229.6:p.Met640ThrfsTer2
ENST00000335922.9:c.2160_2161dup ENSP00000337247.5:p.Met721ThrfsTer2
ENST00000341462.8:c.*1240_*1241dup ENSP00000340636.6:n.*1240_*1241dup
ENST00000356207.9:c.1923_1924dup ENSP00000348537.5:p.Met642ThrfsTer2
ENST00000397091.9:c.2184_2185dup ENSP00000380280.5:p.Met729ThrfsTer2
ENST00000397103.5:c.1923_1924dup ENSP00000380292.1:p.Met642ThrfsTer2
ENST00000397108.8:c.2184_2185dup ENSP00000380297.4:p.Met729ThrfsTer2
ENST00000397113.6:c.2184_2185dup ENSP00000380302.2:p.Met729ThrfsTer2
ENST00000425967.7:c.2283_2284dup ENSP00000393312.3:p.Met762ThrfsTer2
ENST00000447712.6:c.2190_2191dup ENSP00000400162.2:p.Met731ThrfsTer2
ENST00000526570.5:n.4469_4470dup
ENST00000531196.5:c.401_402dup ENSP00000434800.1:p.Ter135HisextTer?
ENST00000532791.5:c.2184_2185dup ENSP00000432972.1:p.Met729ThrfsTer2
ENST00000619564.3:c.*1085_*1086dup ENSP00000484553.1:n.*1085_*1086dup
NM_001174063.1:c.2184_2185dup NP_001167534.1:p.Met729ThrfsTer2
NM_001174064.1:c.2160_2161dup NP_001167535.1:p.Met721ThrfsTer2
NM_001174065.1:c.2184_2185dup NP_001167536.1:p.Met729ThrfsTer2
NM_001174066.1:c.1923_1924dup NP_001167537.1:p.Met642ThrfsTer2
NM_001174067.1:c.2283_2284dup NP_001167538.1:p.Met762ThrfsTer2
NM_015850.3:c.2184_2185dup NP_056934.2:p.Met729ThrfsTer2
NM_023105.2:c.1923_1924dup NP_075593.1:p.Met642ThrfsTer2
NM_023106.2:c.1917_1918dup NP_075594.1:p.Met640ThrfsTer2
NM_023110.2:c.2190_2191dup NP_075598.2:p.Met731ThrfsTer2
XM_006716303.2:c.2190_2191dup XP_006716366.1:p.Met731ThrfsTer2
XM_006716304.1:c.2190_2191dup XP_006716367.1:p.Met731ThrfsTer2
XM_006716305.2:c.2190_2191dup XP_006716368.1:p.Met731ThrfsTer2
XM_006716306.2:c.2184_2185dup XP_006716369.1:p.Met729ThrfsTer2
XM_006716307.1:c.2184_2185dup XP_006716370.1:p.Met729ThrfsTer2
XM_006716309.2:c.2166_2167dup XP_006716372.1:p.Met723ThrfsTer2
XM_006716310.2:c.1923_1924dup XP_006716373.1:p.Met642ThrfsTer2
XM_006716311.1:c.1923_1924dup XP_006716374.1:p.Met642ThrfsTer2
XM_006716312.1:c.1923_1924dup XP_006716375.1:p.Met642ThrfsTer2
XM_006716313.2:c.1917_1918dup XP_006716376.1:p.Met640ThrfsTer2
XM_006716314.1:c.1917_1918dup XP_006716377.1:p.Met640ThrfsTer2
XM_011544443.1:c.2289_2290dup XP_011542745.1:p.Met764ThrfsTer2
XM_011544444.1:c.2283_2284dup XP_011542746.1:p.Met762ThrfsTer2
XM_011544445.1:c.2283_2284dup XP_011542747.1:p.Met762ThrfsTer2
XM_011544446.1:c.2289_2290dup XP_011542748.1:p.Met764ThrfsTer2
XM_011544447.1:c.2283_2284dup XP_011542749.1:p.Met762ThrfsTer2
XM_011544448.1:c.2022_2023dup XP_011542750.1:p.Met675ThrfsTer2
XM_011544449.1:c.2016_2017dup XP_011542751.1:p.Met673ThrfsTer2
XM_011544450.1:c.2016_2017dup XP_011542752.1:p.Met673ThrfsTer2
XM_011544451.1:c.1899_1900dup XP_011542753.1:p.Met634ThrfsTer2
NM_001354367.1:c.2184_2185dup NP_001341296.1:p.Met729ThrfsTer2
NM_001354368.1:c.1911_1912dup NP_001341297.1:p.Met638ThrfsTer2
NM_001354369.1:c.2178_2179dup NP_001341298.1:p.Met727ThrfsTer2
NM_001354370.1:c.1917_1918dup NP_001341299.1:p.Met640ThrfsTer2
XM_006716303.3:c.2190_2191dup XP_006716366.1:p.Met731ThrfsTer2
XM_006716310.3:c.1923_1924dup XP_006716373.1:p.Met642ThrfsTer2
XM_006716312.2:c.1923_1924dup XP_006716375.1:p.Met642ThrfsTer2
XM_006716314.2:c.1917_1918dup XP_006716377.1:p.Met640ThrfsTer2
XM_011544443.2:c.2289_2290dup XP_011542745.1:p.Met764ThrfsTer2
XM_011544445.2:c.2283_2284dup XP_011542747.1:p.Met762ThrfsTer2
XM_011544446.2:c.2289_2290dup XP_011542748.1:p.Met764ThrfsTer2
XM_011544447.2:c.2283_2284dup XP_011542749.1:p.Met762ThrfsTer2
XM_011544450.2:c.2016_2017dup XP_011542752.1:p.Met673ThrfsTer2
XM_017013219.1:c.2277_2278dup XP_016868708.1:p.Met760ThrfsTer2
XM_017013220.1:c.2277_2278dup XP_016868709.1:p.Met760ThrfsTer2
XM_017013221.1:c.2190_2191dup XP_016868710.1:p.Met731ThrfsTer2
XM_017013222.2:c.2184_2185dup XP_016868711.1:p.Met729ThrfsTer2
XM_017013224.2:c.2178_2179dup XP_016868713.1:p.Met727ThrfsTer2
XM_017013225.2:c.2178_2179dup XP_016868714.1:p.Met727ThrfsTer2
XM_017013226.1:c.2016_2017dup XP_016868715.1:p.Met673ThrfsTer2
XM_017013227.1:c.2010_2011dup XP_016868716.1:p.Met671ThrfsTer2
XM_017013229.2:c.1218_1219dup XP_016868718.1:p.Met407ThrfsTer2
XM_017013230.1:c.1218_1219dup XP_016868719.1:p.Met407ThrfsTer2
XM_024447097.1:c.2166_2167dup XP_024302865.1:p.Met723ThrfsTer2
XR_001745495.1:n.2463_2464dup
XR_001745496.1:n.2463_2464dup
NM_001174063.2:c.2184_2185dup NP_001167534.1:p.Met729ThrfsTer2
NM_001174064.2:c.2160_2161dup NP_001167535.1:p.Met721ThrfsTer2
NM_001174065.2:c.2184_2185dup NP_001167536.1:p.Met729ThrfsTer2
NM_001174066.2:c.1923_1924dup NP_001167537.1:p.Met642ThrfsTer2
NM_001354368.2:c.1911_1912dup NP_001341297.1:p.Met638ThrfsTer2
NM_015850.4:c.2184_2185dup NP_056934.2:p.Met729ThrfsTer2
NM_023105.3:c.1923_1924dup NP_075593.1:p.Met642ThrfsTer2
NM_023106.3:c.1917_1918dup NP_075594.1:p.Met640ThrfsTer2
NM_023110.3:c.2190_2191dup MANE Select NP_075598.2:p.Met731ThrfsTer2
NM_001174067.2:c.2283_2284dup NP_001167538.1:p.Met762ThrfsTer2
NM_001354367.2:c.2184_2185dup NP_001341296.1:p.Met729ThrfsTer2
NM_001354369.2:c.2178_2179dup NP_001341298.1:p.Met727ThrfsTer2
NM_001354370.2:c.1917_1918dup NP_001341299.1:p.Met640ThrfsTer2